A Microcefalia Primária Autossômica Recessiva (MCPH) é uma condição genética rara. Ela é herdada de forma autossômica recessiva (o que significa que a pessoa precisa receber o gene alterado de ambos os pais) e pode ter diversas causas genéticas. A MCPH afeta o desenvolvimento do cérebro, especificamente a formação das células nervosas. Caracteriza-se por um tamanho de cabeça menor que o normal desde o nascimento, sem grandes defeitos visíveis na estrutura geral do cérebro, e por dificuldades de aprendizado em graus variados.
Introdução
O que você precisa saber de cara
A microcefalia primária autossômica recessiva (frequentemente abreviada como MCPH, que significa “microcefalia primária hereditária”) é uma condição na qual os bebês nascem com a cabeça muito pequena e um cérebro pequeno. O termo “microcefalia” vem das palavras gregas para “cabeça pequena”.
Bebês com MCPH apresentam uma circunferência craniana incomumente pequena em comparação com outros bebês do mesmo sexo e idade. A circunferência craniana é a medida ao redor da parte mais larga da cabeça, obtida colocando uma fita métrica acima das sobrancelhas e das orelhas e ao redor da parte posterior da cabeça. O volume cerebral dos bebês afetados também é menor que o usual, embora geralmente não apresentem anomalias importantes na estrutura do cérebro. A cabeça e o cérebro crescem ao longo da infância e da adolescência, mas continuam sendo muito menores que o normal.
A MCPH causa deficiência intelectual, que costuma ser de leve a moderada e não se torna mais grave com a idade. A maioria das pessoas com a condição apresenta atraso nas habilidades de fala e linguagem. As habilidades motoras, como sentar, ficar em pé e caminhar, também podem apresentar atraso leve.
Pessoas com MCPH geralmente apresentam poucos ou nenhum outro traço associado à condição. Algumas têm uma testa estreita e inclinada; convulsões leves; problemas de atenção ou comportamento; ou baixa estatura em comparação com outros membros da família. A condição tipicamente não afeta nenhum outro sistema de órgãos importante nem causa outros problemas de saúde.
Fonte: MedlinePlus Genetics (NLM/NIH), traduzidoA Microcefalia Primária Autossômica Recessiva (MCPH) é uma condição genética rara. Ela é herdada de forma autossômica recessiva (o que significa que a pessoa precisa receber o gene alterado de ambos os pais) e pode ter diversas causas genéticas. A MCPH afeta o desenvolvimento do cérebro, especificamente a formação das células nervosas. Caracteriza-se por um tamanho de cabeça menor que o normal desde o nascimento, sem grandes defeitos visíveis na estrutura geral do cérebro, e por dificuldades de aprendizado em graus variados.
Tem tratamento?
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 70 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 187 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
34 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.
Curadoria gene-doença
fontes oficiaisMicrocephaly 24, primary, autosomal recessive
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH24 patients additionally manifest mildly impaired intellectual development, cerebellar vermis hypoplasia, and fifth finger clinodactyly.
Microcephaly 10, primary, autosomal recessive
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH10 is characterized by extremely small head size and death usually by 1 year of age. Neuropathologic examination shows severe loss of neurons as well as neuronal loss of polarity and abnormal dendritic maturation.
Microcephaly 23, primary, autosomal recessive
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small.
Microcephaly 28, primary, autosomal recessive
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH28 is an autosomal recessive form characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood.
Microcephaly 30, primary, autosomal recessive
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH30 is characterized by small head, poor overall growth, and global developmental delay with variably impaired intellectual development. Affected individuals may also have variable congenital anomalies, including atrial septal defect, dysmorphic facial features, tracheal stenosis, and anomalies of the skin and teeth.
Microcephaly 21, primary, autosomal recessive
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH21 features include mild intellectual disability, intrauterine growth retardation, short stature, and microcephaly.
Microcephaly 5, primary, autosomal recessive
A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals have mild to severe intellectual disability. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder.
Microcephaly 1, primary, autosomal recessive
A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals have mild to severe intellectual disability. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. Some MCHP1 patients also present growth retardation, short stature, and misregulated chromosome condensation as indicated by a high number of prophase-like cells detected in routine cytogenetic preparations and poor-quality metaphase G-banding.
Microcephaly 12, primary, autosomal recessive
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small.
Microcephaly 29, primary, autosomal recessive
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH29 is characterized by small head circumference apparent at birth and associated with global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities. Affected individuals also have poor overall growth with short stature, mild dysmorphic facial features, and seizures.
Microcephaly 13, primary, autosomal recessive
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small.
Neuronopathy, distal hereditary motor, autosomal dominant 9
A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. HMND9 is characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs.
Neurodevelopmental disorder with microcephaly, short stature, and speech delay
An autosomal recessive disorder characterized by global developmental delay, short stature, severely impaired intellectual development, microcephaly, poor or absent speech, and behavioral abnormalities including autistic features and aggressive behavior.
Leukodystrophy, hypomyelinating, 10
An autosomal recessive neurologic disorder characterized by postnatal microcephaly, severely delayed psychomotor development, hypomyelination, and reduced cerebral white-matter volume.
Intellectual developmental disorder, autosomal recessive 60
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT60 patients display mild intellectual disability, delayed psychomotor development, learning difficulties, and poor overall growth with variable microcephaly.
Microcephaly 9, primary, autosomal recessive
A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals have intellectual disability. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder.
Intellectual developmental disorder, autosomal recessive 72
A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT72 patients manifest moderate to severe intellectual disability, microcephaly, and dysmorphic facial features.
Neurodevelopmental disorder with microcephaly, ataxia, and seizures
An autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, seizures apparent in infancy, impaired speech, and aggressive behavior. Additional features include microcephaly, ataxia, and muscle weakness.
Microcephaly 6, primary, autosomal recessive
A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals have moderate intellectual disability. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder.
Microcephaly 3, primary, autosomal recessive
A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals have mild to moderate intellectual disability. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder.
Microcephaly 14, primary, autosomal recessive
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small.
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
A disease characterized by microcephaly, moderate to severe intellectual disability, and various type of cortical malformations in most patients. Microcephaly is defined as a head circumference more than 3 standard deviations below the age-related mean. Cortical malformations include pachygyria with cortical thickening, microgyria, lissencephaly, hypoplasia of the corpus callosum, schizencephaly. All affected individuals have delayed psychomotor development. Some patients have seizures.
Microcephaly 8, primary, autosomal recessive
A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals have severe intellectual disability. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder.
Microcephaly 25, primary, autosomal recessive
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH25 patients additionally manifest global developmental delay, severe intellectual disability with speech impairment, attention deficit-hyperactivity disorder, and reduced white matter and thin corpus callosum on brain imaging.
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities
An autosomal recessive disorder characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity. Brain imaging usually shows abnormalities, including enlarged ventricles, white matter defects, and atrophy or hypoplasia of brain tissue. Some patients have a more severe phenotype with seizures, lack of developmental milestones, and early death.
Microcephaly 17, primary, autosomal recessive
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH17 is a severe form characterized by lissencephaly, enlarged ventricles, agenesis of the corpus callosum, cerebellar hypoplasia, and brainstem hypoplasia. Patients manifest delayed psychomotor development, intellectual disability, spasticity, axial hypotonia, and dysmorphic features.
Microcephaly 22, primary, autosomal recessive
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small.
Microcephaly 19, primary, autosomal recessive
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH19 affected individuals manifest severe developmental delay, failure to thrive, cortical blindness, and spasticity. Brain imaging show a simplified gyral pattern, thin corpus callosum, slight ventricular dilation, and delayed myelination.
Microcephaly 11, primary, autosomal recessive
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small.
Meckel syndrome 12
A form of Meckel syndrome, a disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.
Microcephaly 16, primary, autosomal recessive
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small.
Medicamentos aprovados (FDA)
1 medicamento encontrado nos registros da FDA americana.
Variantes genéticas (ClinVar)
116 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 44 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
101 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Microcefalia isolada congênita
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Microcephaly-associated protein WDR62 supports purine metabolism by interacting with co-chaperone BAG2.
Inherited mutations in the spindle pole-associated scaffold protein WDR62 cause autosomal recessive primary microcephaly. Previous research has characterised the roles of WDR62 in the regulation of spindle dynamics, cell division, and brain development. Here, we identify a new function of this protein in regulating purine metabolism. WDR62 interacts directly with BAG2, a co-chaperone of HSP70/90. Under stress conditions, WDR62 and BAG2 re-localise to cytoplasmic granules enriched for enzymes involved in purine synthesis (PFAS) and salvage (HPRT). In WDR62-deficient cells, purine synthesis is impaired, while purine deprivation leads to cytotoxicity and nucleoside accumulation. Furthermore, in these cells elevated BAG2 levels are linked to HPRT destabilisation, which can be reversed by BAG2 knockdown. Notably, microcephaly-associated WDR62 mutations disrupt interaction with BAG2 and fail to restore HPRT levels. In utero depletion of WDR62 or HPRT in the mouse neocortex causes premature delamination and migration of neural precursor cells. Interestingly, HPRT loss enhances self-renewal and proliferation of these precursors, contrasting with the reduced proliferation and precocious differentiation observed upon WDR62 loss. Our study identifies regulatory functions of WDR62 in purine metabolism that may contribute to primary microcephaly.
A Human Neural Tube Model Using 4D Self-Folding Smart Scaffolds.
The human brain originates from the neural tube that detaches from the ectodermal layer and gradually develops into a mature structure through highly regulated molecular and cellular processes. Here, stem cell technology is combined with 4D bioprinting, a fabrication process that utilizes additive manufacturing, to generate a 4D-neural tube (4D-NT). This consists of a scaffold that can self-fold over time, which is then populated with iPSC-derived neuroprogenitors, mimicking neural tube cellular architecture. The scaffold's "smart" self-folding behavior is driven by the differential swelling properties of bilayer films, which create a deformation gradient upon hydration. Cellular analyses reveal a highly efficient induction of neuroprogenitors on 4D-NTs, demonstrating the ability of this model to mimic the spatial and structural complexity of the developing human neural tube. Furthermore, 4D-NTs seeded with iPSCs with a mutation in WDR62, associated with autosomal recessive primary microcephaly (MCPH), recapitulate the earlier observations obtained in 2D/3D neural cultures, thereby validating the newly developed 4D-NT platform and suggesting it represents a tool that can facilitate understanding of human neural development and disease.
Expanding the mutational spectrum of congenital microcephaly in Pakistani families.
Autosomal recessive primary microcephaly (MCPH) is a genetically heterogeneous neurodevelopmental disorder characterized by a markedly reduced head circumference (-3 to -5 standard deviations) at birth, with relatively preserved brain architecture. Affected individuals often present with mild to moderate intellectual disability, and the condition is more prevalent in populations with high rates of consanguinity, such as Pakistan. To date, pathogenic variants in at least 32 genes have been associated with MCPH, with ASPM and WDR62 accounting for the majority of cases (68% and 14%, respectively). In this study, we investigated four consanguineous families with congenital microcephaly and identified three novel variants in CPAP, WDR62, and ASPM. In Family 1, we identified a novel missense variant (c.3947C>A; p. (Thr1316Lys) in CPAP (NM_018451.4) located within the highly conserved TCP domain, which mediates interactions with other MCPH proteins, including STIL and CEP135. Family 2 harbored a previously unreported splice-site variant, c.2867 + 5G>T, in WDR62 (NM_001083961.2). In Families 3 and 4, we identified one novel (c.3188T>G; p. (Leu1063*)) and one previously reported (c.9730C>T; p. (Arg3244*)) pathogenic variant in ASPM (NM_018136.4). Computational analyses and structural modeling indicated that all these variants are likely deleterious, disrupting normal protein function. Our findings expand the mutational spectrum of CPAP and WDR62 and reinforce ASPM as the most frequently mutated gene underlying MCPH in the Pakistani population.
Mutation screening of the ASPM gene in multiple Pashtun origin MCPH families revealed the recurrent nonsense mutation p.Trp1326*: A step towards the development of a genetic diagnostic test.
Microcephaly primary hereditary (MCPH) is a rare neurodevelopmental disorder characterized by a reduced head circumference and variable severity of intellectual disability, typically inherited in an autosomal recessive pattern. Mutations in over 32 genes have been associated with the etiology of MCPH to date, among which ASPM gene is the most frequently mutated, accounting for approximately 68.8% globally. In Pakistan, particularly within the Pashtun population of Khyber Pakhtunkhwa (KP), ASPM mutations are highly prevalent. In this study, we analysed clinical and genetic features of nine consanguineous MCPH families. Among these, six families revealed recurrent nonsense mutation p.Trp1326*(c.3978G > A), increasing the evidence of it being a founder mutation. In addition to this, genetic analysis of other Pashtun origin families found previously reported nonsense mutation in the same ASPM gene, which include p.Arg3244*(c.9730 C > T), p.Tyr3164*(c.9492T > G), and p.Ser1176*(c.3527 C > G). Clinical assessments of patients revealed microcephaly with mild to severe intellectual disability, impaired interpersonal skills, delayed speech, with no evidence of skeletal, muscular, and major organ abnormalities. Protein modeling and conformation analysis suggested less similarity between wild-type and mutated ASPM proteins, which ranged from 0.24% to 0.68%. Further to the current study, a total of 58 families are known to carry the ASPM p.Trp1326* mutation in the Pashtun Population. These findings emphasize the critical role of ASPM in MCPH pathogenesis, strengthening the evidence of recurrent p.Trp1326* mutation as a founder variant in the Pashtun population. The present study signifies the importance of genetic screening and counselling for effective diagnosis of MCPH in high-risk Pashtun origin Pakistani population.
Expanding the Clinical and Molecular Spectrum of Primary Autosomal Recessive Microcephaly: Novel CDK5RAP2 Gene Variants and Functional Insights on the Intronic Variants.
Background/Objectives: Autosomal recessive primary microcephaly is a rare and genetically heterogeneous disorder characterized by congenital non-syndromic microcephaly, with at least 28 causative genes identified to date. Biallelic variants in the CDK5RAP2 gene, an ultra-rare cause of autosomal recessive primary microcephaly, lead to Primary Autosomal Recessive Microcephaly 3 (MCPH3). Methods: We present seven patients from six families diagnosed with MCPH3 in light of clinical and molecular findings using whole-exome sequencing (WES). Furthermore, we investigated the effects of the identified intronic variants on splicing through RNA analysis. Results: Almost all patients had severe microcephaly, mild to moderate intellectual disability, speech delay, and cutaneous pigmentary abnormalities. Four patients presented with postnatal short stature, and two showed weight deficiency. Dysmorphic evaluation revealed that the most prominent features included brachycephaly, hypertelorism, epicanthus, high-arched eyebrows, prominent nasal bridge, and micrognathia. We identified five distinct homozygous CDK5RAP2 variants in our patients, including four novel variants. Segregation analysis verified that the parents were carriers. Two of these variants were intronic (c.3148+5G>C and c.383+4dupA), two were frameshift (c.3168del), and one was a nonsense variant (c.1591C>T). Both intronic variants disrupted splicing, generating a premature stop codon and resulting in a truncated protein. Conclusions: This study broadens the mutational landscape of CDK5RAP2. We also sought to demonstrate the functional consequences of the CDK5RAP2 intronic variants on gene function using RNA analysis. The identification of four novel variants underscores the importance of molecular diagnostics in patients with primary microcephaly and provides valuable data for genetic counseling and future functional studies.
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Expanding the Clinical and Molecular Spectrum of Primary Autosomal Recessive Microcephaly: Novel CDK5RAP2 Gene Variants and Functional Insights on the Intronic Variants.
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The EMBO journalExpanding the mutational spectrum of congenital microcephaly in Pakistani families.
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GenesThe Role of Mfsd2a in Nervous System Diseases.
Frontiers in neuroscienceMicrocephaly primary hereditary (MCPH): Report of novel ASPM variants and prenatal diagnosis in a Vietnamese family.
Taiwanese journal of obstetrics & gynecologyMFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease.
European journal of medical geneticsNovel Pathogenic Mutation Mapping of ASPM Gene in Consanguineous Pakistani Families with Primary Microcephaly.
Brazilian journal of biology = Revista brasleira de biologiaUpdates on Clinical and Genetic Heterogeneity of ASPM in 12 Autosomal Recessive Primary Microcephaly Families in Pakistani Population.
Frontiers in pediatricsHuman Microcephaly Protein RTTN Is Required for Proper Mitotic Progression and Correct Spindle Position.
CellsExpanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders.
Human molecular geneticsHomozygous mutation in MCM7 causes autosomal recessive primary microcephaly and intellectual disability.
Journal of medical geneticsMolecular evolutionary analysis of human primary microcephaly genes.
BMC ecology and evolutionCEP135 associated primary microcephaly-A rare presentation in early second trimester.
European journal of medical geneticsNovel variant in BRAT1 with the lethal neonatal rigidity and multifocal seizure syndrome.
Pediatric researchWhole Exome Sequencing Identifies Three Novel Mutations in the ASPM Gene From Saudi Families Leading to Primary Microcephaly.
Frontiers in pediatricsNovel neuroclinical findings of autosomal recessive primary microcephaly 15 in a consanguineous Iranian family.
European journal of medical geneticsDissecting the Genetic and Etiological Causes of Primary Microcephaly.
Frontiers in neurologyASPM predicts poor prognosis and regulates cell proliferation in bladder cancer.
The Kaohsiung journal of medical sciencesMicrocephaly family protein MCPH1 stabilizes RAD51 filaments.
Nucleic acids researchAn update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.
Molecular genetics & genomic medicineBiallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features.
European journal of human genetics : EJHGThe Yin and Yang of Autosomal Recessive Primary Microcephaly Genes: Insights from Neurogenesis and Carcinogenesis.
International journal of molecular sciencesA truncating Aspm allele leads to a complex cognitive phenotype and region-specific reductions in parvalbuminergic neurons.
Translational psychiatryWhole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report.
BMC neurologyA Novel Frameshift Mutation in Abnormal Spindle-Like Microcephaly (ASPM) Gene in an Iranian Patient with Primary Microcephaly: A Case Report.
Iranian journal of public healthNetwork of Interactions between ZIKA Virus Non-Structural Proteins and Human Host Proteins.
CellsNormal early development in siblings with novel compound heterozygous variants in ASPM.
Human genome variationGenetic study of Khyber-Pukhtunkhwa resident Pakistani families presenting primary microcephaly with intellectual disability.
JPMA. The Journal of the Pakistan Medical AssociationTwo Novel Mutations (c.883-4_890del and c.1684C>G) of WDR62 Gene Associated With Autosomal Recessive Primary Microcephaly: A Case Report.
Frontiers in pediatrics[Update on autosomal recessive primary microcephaly (MCPH)-associated proteins].
Yi chuan = HereditasCongenital microcephaly-linked CDK5RAP2 affects eye development.
Annals of human geneticsMisclassification in defining and diagnosing microcephaly.
Paediatric and perinatal epidemiologyPhenomenology of Epilepsy in a Child with a ZNF335 Encephalopathy.
Indian journal of pediatricsAltered inhibition and excitation in neocortical circuits in congenital microcephaly.
Neurobiology of diseaseMutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish.
Brain : a journal of neurologyA novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature.
Journal of applied geneticsNovel SASS6 compound heterozygous mutations in a Chinese family with primary autosomal recessive microcephaly.
Clinica chimica acta; international journal of clinical chemistryCenpj Regulates Cilia Disassembly and Neurogenesis in the Developing Mouse Cortex.
The Journal of neuroscience : the official journal of the Society for NeuroscienceMEKK3 coordinates with FBW7 to regulate WDR62 stability and neurogenesis.
PLoS biologyAutosomal recessive primary microcephaly due to ASPM mutations: An update.
Human mutationComprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH).
Genetics researchA novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report.
BMC medical geneticsThe Genetics of Primary Microcephaly.
Annual review of genomics and human geneticsTLE1, a key player in neurogenesis, a new candidate gene for autosomal recessive postnatal microcephaly.
European journal of medical geneticsPhenotypes in siblings with homozygous mutations of TRAPPC9 and/or MCPH1 support a bifunctional model of MCPH1.
Molecular genetics & genomic medicineExpanding the clinical spectrum of biallelic ZNF335 variants.
Clinical geneticsPrimary microcephaly caused by novel compound heterozygous mutations in ASPM.
Human genome variationWhole exome sequencing identifies a novel homozygous frameshift mutation in the ASPM gene, which causes microcephaly 5, primary, autosomal recessive.
F1000Research[Hereditary primary microcephaly type 5. Not everything is Zika virus].
Revista de neurologiaLongitudinal Diffusion Tensor Imaging Revealed Nerve Fiber Alterations in Aspm Mutated Microcephaly Model Mice.
NeuroscienceNovel STIL Compound Heterozygous Mutations Cause Severe Fetal Microcephaly and Centriolar Lengthening.
Molecular syndromologyThe Role of WD40-Repeat Protein 62 (MCPH2) in Brain Growth: Diverse Molecular and Cellular Mechanisms Required for Cortical Development.
Molecular neurobiologyD40/KNL1/CASC5 and autosomal recessive primary microcephaly.
Congenital anomaliesMutations of KIF14 cause primary microcephaly by impairing cytokinesis.
Annals of neurologyCMA analysis identifies homozygous deletion of MCPH1 in 2 brothers with primary Microcephaly-1.
Molecular cytogeneticsMolecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene.
Journal of geneticsConsequences of Centrosome Dysfunction During Brain Development.
Advances in experimental medicine and biologyNeurodevelopmental protein Musashi-1 interacts with the Zika genome and promotes viral replication.
Science (New York, N.Y.)Severe congenital microcephaly with AP4M1 mutation, a case report.
BMC medical geneticsGeneration of iPSC-derived Human Brain Organoids to Model Early Neurodevelopmental Disorders.
Journal of visualized experiments : JoVEAutosomal Recessive Primary Microcephaly (MCPH): An Update.
NeuropediatricsA novel WDR62 mutation causes primary microcephaly in a large consanguineous Saudi family.
Annals of Saudi medicineGenetic heterogeneity in Pakistani microcephaly families revisited.
Clinical geneticsCDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly.
Molecular genetics and genomics : MGGA novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly.
Annals of Saudi medicineMolecular analysis of 23 Pakistani families with autosomal recessive primary microcephaly using targeted next-generation sequencing.
Journal of human geneticsExpanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis.
Clinical geneticsCIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly.
Human geneticsBiallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.
American journal of human geneticsMolecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.
American journal of medical genetics. Part ACO-OCCURRENCE OF PRIMARY MICROCEPHALY CAUSED BY A NOVEL HOMOZYGOUS ASPM MUTATION ALONG WITH X-LINKED ICHTHYOSIS IN THE SAME PATIENT.
Genetic counseling (Geneva, Switzerland)The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family.
Journal of the neurological sciencesAbnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory.
Cortex; a journal devoted to the study of the nervous system and behaviorRefining the phenotype associated with CASC5 mutation.
NeurogeneticsRTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.
American journal of human geneticsNovel splice-site mutation in WDR62 revealed by whole-exome sequencing in a Sudanese family with primary microcephaly.
Congenital anomaliesAnaesthesia and orphan disease: primary autosomal recessive microcephaly-10 caused by a mutation in the ZNF335 gene.
European journal of anaesthesiologyMutations in CDK5RAP2 cause Seckel syndrome.
Molecular genetics & genomic medicineNovel Alternative Splice Variants of Mouse Cdk5rap2.
PloS oneExome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum.
European journal of human genetics : EJHGA case report: Autosomal recessive microcephaly caused by a novel mutation in MCPH1 gene.
GeneWhat next-generation sequencing (NGS) technology has enabled us to learn about primary autosomal recessive microcephaly (MCPH).
Molecular and cellular probesMolecular genetics of human primary microcephaly: an overview.
BMC medical genomicsLoss of CDK5RAP2 affects neural but not non-neural mESC differentiation into cardiomyocytes.
Cell cycle (Georgetown, Tex.)Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay.
American journal of medical genetics. Part AMCPH1: a window into brain development and evolution.
Frontiers in cellular neuroscienceAssociações
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Não há cura conhecida ou terapia medicamentosa capaz de reverter a condição. O cuidado concentra-se no atendimento em reabilitação para apoiar o desenvolvimento intelectual e motor.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
5 publicações do grafo RarasNet (PubMed) · 6 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Citar este verbete
Raras. (s.d.). Microcefalia isolada congênita. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/microcefalia-isolada-congenita
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Microcefalia isolada congênita
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- Doença rara (ontologia)
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- fonte: MONDO
- Codificação WHO/SUS
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- fonte: WHO ICD-11
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- fonte: GARD (NIH)
- Indexação biomédica
- fonte: MeSH (NLM)
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- fonte: Wikidata
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- fonte: FDA OpenFDA
