Distúrbio genético caracterizado por deficiência intelectual, hipotonia infantil, atraso grave na fala expressiva e aparência facial distinta com um espectro de características clínicas adicionais.
Introdução
O que você precisa saber de cara
Distúrbio genético caracterizado por deficiência intelectual, hipotonia infantil, atraso grave na fala expressiva e aparência facial distinta com um espectro de características clínicas adicionais.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 53 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 166 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
2 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.
Histone methyltransferase that catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) (PubMed:25561738). Part of chromatin remodeling machinery predominantly forms H3K4me1 methylation marks at active chromatin sites where transcription and DNA repair take place (PubMed:22266653, PubMed:24081332, PubMed:25561738). Likely plays a redundant role with KMT2D in enriching H3K4me1 mark on primed and active enhancer elements (PubMed:240813
Nucleus
Kleefstra syndrome 2
A form of Kleefstra syndrome, an autosomal dominant disease characterized by variable intellectual disability, psychomotor developmental delay, seizures, behavioral abnormalities, and facial dysmorphisms.
Histone methyltransferase that specifically mono-, di- and trimethylates 'Lys-9' of histone H3 (H3K9me1, H3K9me2 and H3K9me3, respectively) in euchromatin (PubMed:12004135). H3K9me represents a specific tag for epigenetic transcriptional repression by recruiting HP1 proteins to methylated histones (PubMed:12004135). Also weakly methylates 'Lys-27' of histone H3 (H3K27me) (PubMed:12004135). Also required for DNA methylation, the histone methyltransferase activity is not required for DNA methylati
NucleusChromosome
Kleefstra syndrome 1
A form of Kleefstra syndrome, an autosomal dominant disease characterized by variable intellectual disability, psychomotor developmental delay, seizures, behavioral abnormalities, and facial dysmorphisms. KLEFS1 patients additionally manifest brachy(micro)cephaly, congenital heart defects, and urogenital defects.
Variantes genéticas (ClinVar)
1,323 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 2,486 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
12 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 — Síndrome de Kleefstra
Selecione um estado ou use sua localização para ver resultados.
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
Keeping up the beat of Kleefstra syndrome.
Long QT syndrome (LQTS) is a rare and potentially life-threatening arrhythmia characterized by delayed repolarization on electrocardiogram (EKG) evaluation. Although LQTS is primarily associated with defects in ion channels, in approximately 20% of cases the genetic cause remains unknown. Kleefstra syndrome (KS), a rare neurodevelopmental disorder caused by alterations in the EHMT1 gene, has been associated with various cardiac abnormalities, including structural defects and arrhythmias. Here we report the second case of LQT in a patient with KS, strengthening the association between these two conditions. Although rare in KS, LQT may represent a potentially life-threatening condition that requires careful monitoring. Further, we present a detailed clinical case and a literature review on cardiac rhythm abnormalities in KS, highlighting the importance of EKG monitoring in these patients. Further studies are needed to clarify the link between EHMT1 and cardiac arrhythmias and to establish the potential role of EHMT1 in the epigenetic modulation of cardiac pacemakers. These insights may have important implications in management of patients with KS and other Mendelian disorders of epigenetic machinery (MDEMs). The online version contains supplementary material available at 10.1186/s13052-026-02207-8.
International Clinical Evidence-based Guideline for Kleefstra Syndrome.
Kleefstra syndrome (KLEFS1) is a rare monogenic neurodevelopmental disorder (mNDD) with multisystem involvement, caused by disruption of EHMT1 function, resulting in significant burden on affected individuals and their families. The current shortage of and globally scattered syndrome-specific knowledge has led to significant disparities in the access to and provision of evidence-based and individual-centered expert care. To address the challenges and improve outcomes for individuals with KLEFS1, an international KLEFS1 guideline consortium was formed consisting of 43 participants, both clinical experts and patient-representatives, from 15 different countries. The primary goal of the consortium was to develop a comprehensive and high-quality guideline for KLEFS1, aiming to enhance patient care, establish a uniform minimum international standard of care, and support decision-making. The current clinical guideline is evidence-based and includes 66 tailored recommendations to improve KLEFS1 care. The comprehensive methodological approach ensures broad consensus and supports effective implementation. Furthermore, this guideline serves as a valuable methodological model for guideline development in the context of rare disorders.
The Infant and Toddler Developmental Profile of Kleefstra Syndrome.
The early developmental profile of Kleefstra syndrome remains undercharacterized. To address this gap, this study investigated a large clinical cohort of patients with Kleefstra syndrome, characterizing age of achievement of infant/toddler developmental milestones and quantifying language and visual motor developmental quotients (DQs) using the Capute Scales developmental screening tool. We conducted a retrospective chart review on individuals with molecularly confirmed Kleefstra syndrome. We reported age of achievement of motor and language milestones. In a subset of this cohort, we evaluated DQs for language and visual motor skills based on the Capute Scales. Among 100 individuals (43 males, 57 females; median age 9 years), rolling occurred at a median of 6 months, sitting at 10 months, independent walking at 1.96 years, and first words at 24 months. Capute Scales testing (n = 24) showed median DQs as follows: visual motor skills (53, IQR = 42-71), overall language (56, IQR = 42-67), expressive language (52, IQR = 35-60), and receptive language (50, IQR = 42-61). This work quantifies the early developmental profile of Kleefstra syndrome and suggests that developmental delay can be significant from an early age, making early initiation of services such as physical therapy, occupational therapy, and speech therapy crucial to ensuring optimal skills development. This cross-sectional analysis highlights the need for incorporating longitudinal developmental assessments into the clinical care of patients with Kleefstra syndrome-particularly during infancy and early childhood-to ensure that appropriate educational supports are in place.
Genotype-phenotype correlations in 9q34.3 microdeletion syndrome: a study of 35 Mainland Chinese patients.
To provide the molecular characterizations and clinical profiles in patients with KLEFS1(Kleefstra syndrome 1) of Chinese ethic group and explore the genotype-phenotype correlation in this underrepresented population. A total of 35 Mainland Chinese patients with KLEFS1 were reported in the present study. The clinical data were assessed through reviewing medical records and standardized medical history questionnaires. We analyzed EHMT1 variants and 9q34.3 microdeletion and performed genotype–phenotype correlation in two groups. 17 novel variants of EHMT1 were identified, adding to the genetic landscape of the disorder. For the first time, we retrospectively describe the prenatal presentations and assess facial dysmorphisms in our cohort. There was no significant difference between the two groups in prevalence of clinical manifestations such as DD/ID, neurological symptoms, behavioral issues, obesity, congenital cardiac anomalies, male genital anomalies, or most other related clinical features, including developmental quotients (DQ). However, the frequencies of everted lower lip, small and spaced teeth, short neck, and renal anomalies were significantly higher among patients with deletions encompassing more than EHMT1 compared to those with EHMT1 variants (or deletions only disrupting EHMT1), with rates of 20% vs. 83.3% (P = 0.014), 14.3% vs. 80%(P = 0.017)13.3% vs. 66.7% (P = 0.031) and 5.3% vs. 42.9% (P = 0.047) respectively. This is the largest series of patients with KLEFS1 published to date in Mainland China. EHMT1 haploinsufficiency contributes to the majority of important phenotypes of KLEFS1. Our findings enrich our knowledge of 9q34.3 microdeletion and enhance our comprehension of the pathogenic molecular mechanisms of EHMT1. The online version contains supplementary material available at 10.1186/s13023-025-04076-6.
Characterizing healthcare resource utilization in two rare diseases (Kleefstra syndrome and SLC6A1 epileptic encephalopathy) using multimodal real-world data.
The cumulative economic burden of rare diseases surpasses that of common conditions, yet patterns of healthcare resource utilization (HRU) across rare diseases remain poorly characterized. This study leverages multimodal data collected during clinical care and through surveys to provide an in-depth evaluation of HRU across the disease journey of individuals with rare genetic diseases. Individuals with a confirmed diagnosis of Kleefstra syndrome (KS; n = 40) or SLC6A1 epileptic encephalopathy (SLC6A1; n = 30) were recruited. Structured and unstructured data were abstracted from participants' medical records. Encounters per person-year of follow-up were calculated and compared pre- and post-diagnosis. Parents/guardians completed surveys assessing the impact of the participant's diagnosis on their care. Records were available for a median of 6.4 years of follow-up from 268 unique healthcare facilities (median per patient = 4.5 facilities). Numbers of healthcare encounters were not significantly different 1 year pre- and post-diagnosis for either condition; however, the proportion of specialty encounters pre- and post-diagnosis varied significantly. Genetics encounters decreased for both conditions post-diagnosis. Cardiology, sleep medicine, and radiology encounters increased in KS post-diagnosis; conversely, audiology encounters decreased in KS post-diagnosis, and radiology encounters decreased in SLC6A1 post-diagnosis. Among specialty encounter types assessed, general practitioner (e.g. primary care, including pediatrics) encounters were the most common type for KS participants and the second-most common for SLC6A1 participants (after neurology encounters) both 1 year pre- and post-diagnosis. The number of both echocardiograms and electrocardiograms (ECG) significantly increased in KS 1 year post-diagnosis. 68% of survey respondents indicated that the participant's care changed post-diagnosis. Though there was no significant difference in the number of encounters pre- and post-diagnosis, significant changes in types of HRU suggest that diagnosis leads to more appropriate care and treatment. Advocacy organizations, researchers, drug developers, payors, and policymakers should consider the value of an early diagnosis to improve long-term outcomes and quality of life for patients and invest in measures that will shorten the time to diagnosis accordingly.
Publicações recentes
Novel Variants in KMT2C Further Support a Neurodevelopmental Disorder Distinct From Kleefstra and Kabuki Syndromes.
Keeping up the beat of Kleefstra syndrome.
🥉 Relato de casoThe Infant and Toddler Developmental Profile of Kleefstra Syndrome.
International Clinical Evidence-based Guideline for Kleefstra Syndrome.
Kmt2c/Mll3 Haploinsufficiency Causes Autism-like Behavioral Deficits in Mice.
📚 EuropePMC108 artigos no totalmostrando 141
Keeping up the beat of Kleefstra syndrome.
Italian journal of pediatricsThe Infant and Toddler Developmental Profile of Kleefstra Syndrome.
American journal of medical genetics. Part AInternational Clinical Evidence-based Guideline for Kleefstra Syndrome.
Genetics in medicine : official journal of the American College of Medical GeneticsKmt2c/Mll3 Haploinsufficiency Causes Autism-like Behavioral Deficits in Mice.
BiomoleculesGenotype-phenotype correlations in 9q34.3 microdeletion syndrome: a study of 35 Mainland Chinese patients.
Orphanet journal of rare diseasesRecognizing and Treating Catatonia in Kleefstra Syndrome.
Journal of visualized experiments : JoVEMachine Learning Algorithms in EEG Analysis of Kleefstra Syndrome: Current Evidence and Future Directions.
Sensors (Basel, Switzerland)Thoracotomy-assisted arterial duct stenting in a 1.6-kg infant with Kleefstra syndrome: a case report.
Cardiology in the youngParental experiences and needs in Kleefstra Syndrome: A semi-structured interview study.
European journal of medical geneticsCharacterizing healthcare resource utilization in two rare diseases (Kleefstra syndrome and SLC6A1 epileptic encephalopathy) using multimodal real-world data.
Orphanet journal of rare diseasesDevelopment of a Patient and Caregiver-Centered Pediatric Disease Concept Model for Kleefstra Syndrome.
Sage open pediatricsThe Regulatory Roles of REST in the Synaptic Development, Function and Related Neurological Disorders.
Journal of neurochemistryCongenital diseases with defects in DNA methylation maintenance: focusing on ICF syndrome and multilocus imprinting disturbance.
Genes & genetic systemsA Novel Frameshift Variant and a Partial EHMT1 Microdeletion in Kleefstra Syndrome 1 Patients Resulting in Variable Phenotypic Severity and Literature Review.
GenesPossible role of mosaic mutations of neurodevelopmental disorder-related genes in bipolar disorder: Lessons from Kmt2c chimeric heterozygous knockout mice.
Neuroscience researchA new association between Kleefstra syndrome and Panayiotopoulos epilepsy.
Italian journal of pediatricsLong term follow-up of multiorgan disease in Kleefstra syndrome 2 in an adult - case report.
BMC neurologyHighlighting cardiovascular manifestations of kleefstra syndrome: literature review and clinical insights.
BMC cardiovascular disordersKBG syndrome: report and follow-up on three unrelated patients observed at different ages.
Italian journal of pediatricsOdevixibat treatment in a child with hypoplastic left heart syndrome and severe cholestatic pruritus: a case report.
Frontiers in pediatricsKMT2C Polymorphism in Familial Hypospadias.
Indian journal of pediatricsNovel Phenotypes and Genotype-Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome.
Clinical geneticsFrom growth hormone deficiency to Kleefstra-2 syndrome: diagnostic reassessment of treatment-refractory short stature.
Pediatric endocrinology, diabetes, and metabolismClinical characteristics and genetic analysis of four pediatric patients with Kleefstra syndrome.
BMC medical genomicsEHMT2 as a Candidate Gene for an Autosomal Recessive Neurodevelopmental Syndrome.
Molecular neurobiologyComparison of Genetic, Auditory Features, and Systemic Clinical Phenotype in 14 Families with Syndromic Hearing Loss.
The application of clinical geneticsLeveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps.
Genome researchPrenatal diagnosis of 9q34.3 microdeletion-associated Kleefstra syndrome in a pregnancy complicated by polyhydramnios: A case report and literature review.
Taiwanese journal of obstetrics & gynecologyEstablishment of human pluripotent stem cell-derived cortical neurosphere model to study pathomechanisms and chemical toxicity in Kleefstra syndrome.
Scientific reportsExploring Kleefstra syndrome cohort phenotype characteristics: Prevalence insights from caregiver-reported outcomes.
European journal of medical geneticsThe overlapping of phenotypes in Wiedemann-Steiner, Kleefstra and Coffin-Siris syndromes: a study of eleven patients.
Italian journal of pediatricsThe first Brazilian clinical report of Kleefstra syndrome, including semicircular canals agenesis as a possible phenotype expansion.
European journal of medical geneticsPathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
American journal of human geneticsComprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
American journal of human geneticsOccupational Therapy in Kleefstra Syndrome.
Iranian journal of child neurologyHuman Genetics of Ventricular Septal Defect.
Advances in experimental medicine and biologyMind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions.
medRxiv : the preprint server for health sciencesTranscriptomic dysregulation and autistic-like behaviors in Kmt2c haploinsufficient mice rescued by an LSD1 inhibitor.
Molecular psychiatryGenotype-phenotype correlations in a fetus with Kleefstra syndrome.
Taiwanese journal of obstetrics & gynecologyRefining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.
Clinical geneticsNovel germline variants in KMT2C in Chinese patients with Kleefstra syndrome-2.
Frontiers in neurologyExpanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.
Journal of medical geneticsArrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link.
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of CardiologyA Korean male with Kleefstra syndrome presented with micropenis.
Annals of pediatric endocrinology & metabolismGrowth, body composition, and endocrine-metabolic profiles of individuals with Kleefstra syndrome provide directions for clinical management and translational studies.
American journal of medical genetics. Part AA novel 11 base pair deletion in KMT2C resulting in Kleefstra syndrome 2.
Molecular genetics & genomic medicineDeep computational phenotyping of genomic variants impacting the SET domain of KMT2C reveal molecular mechanisms for their dysfunction.
Frontiers in geneticsMeasuring Adaptive Behavior in Patients with Mendelian Neurodevelopmental Disorders. Comparison of ABAS-3 and Dutch Vineland Scales.
Clinical neuropsychiatryA multi-layered computational structural genomics approach enhances domain-specific interpretation of Kleefstra syndrome variants in EHMT1.
Computational and structural biotechnology journalTourette-like syndrome secondary to Kleefstra syndrome 1 with a de novo microdeletion in the EHMT1 gene.
BMC neurologyElectroclinical Features of Epilepsy in Kleefstra Syndrome.
NeuropediatricsKleefstra Syndrome-Dental Manifestations and Needs: A Case Report with a Literature Review.
Case reports in dentistryMultiple copy number variation in a patient with Kleefstra syndrome.
Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao PauloPsychiatric manifestations of Kleefstra syndrome: a case report.
Frontiers in psychiatryKMT2C knockout generates ASD-like behaviors in mice.
Frontiers in cell and developmental biologyKleefstra syndrome presenting as pulmonary atresia with intact ventricular septum diagnosed prenatally at 16 weeks using four-dimensional spatiotemporal image correlation.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologySuccess and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond.
GenesCell consequences of loss of function of the epigenetic factor EHMT1.
Cellular signallingPrecise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of KMT2C disruption.
Congenital anomaliesObserving the behavioural effects of methylphenidate in children and adolescents with ASD-ADHD dual diagnosis: A mini review.
Frontiers in child and adolescent psychiatryDefensive and offensive behaviours in a Kleefstra syndrome mouse model.
Animal cognitionThe role of the gut microbiota in patients with Kleefstra syndrome.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric GeneticsPsychosis and autism without functional regression in a patient with Kleefstra syndrome.
Psychiatric geneticsSyndromic and non-syndromic etiologies causing neonatal hypocalcemic seizures.
Frontiers in endocrinologyMultiple Mongolian spots in an individual with Kleefstra syndrome caused by a novel nonsense euchromatin histone methyltransferase 1 variant.
Clinical dysmorphologyNRSF/REST lies at the intersection between epigenetic regulation, miRNA-mediated gene control and neurodevelopmental pathways associated with Intellectual disability (ID) and Schizophrenia.
Translational psychiatryCase Report: Long-Term Treatment and Follow-Up of Kleefstra Syndrome-2.
Frontiers in pediatricsWDR5-HOTTIP Histone Modifying Complex Regulates Neural Migration and Dendrite Polarity of Pyramidal Neurons via Reelin Signaling.
Molecular neurobiologyTibialis Anterior and Posterior Tendon Transfer for Clubfoot Relapse in a Child with Duchenne Muscular Dystrophy: A Case Report.
JBJS case connectorDe Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review.
Pediatric reportsFunctional validation of variants of unknown significance using CRISPR gene editing and transcriptomics: A Kleefstra syndrome case study.
GeneCRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency.
Stem cell research & therapyDetection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants.
Molecular genetics & genomic medicineKleefstra Syndrome with Severe Sensory Neural Deafness and <em>De Novo</em> Novel Mutation.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSP[Clinical and genetic analysis of three children patients with Kleefstra syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsIdentification of a Rare Novel KMT2C Mutation That Presents with Schizophrenia in a Multiplex Family.
Journal of personalized medicine[Genetic analysis of a family with 9q34.3 microdeletion and microduplication caused by abnormal chromosome balance structure].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsSoma-to-germline transformation in chromatin-linked neurodevelopmental disorders?
The FEBS journalKleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation.
American journal of medical genetics. Part AAnatomy of DNA methylation signatures: Emerging insights and applications.
American journal of human geneticsClinical phenotypes and molecular findings in ten Chinese patients with Kleefstra Syndrome Type 1 due to EHMT1 defects.
European journal of medical geneticsDerepression of inflammation-related genes link to microglia activation and neural maturation defect in a mouse model of Kleefstra syndrome.
iScienceFirst episode of psychosis in Kleefstra syndrome: a case report.
Neurocase[Genetic analysis of three patients with Kleefstra syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsMLPA analysis of 32 foetuses with a congenital heart defect and 1 foetus with renal defects - pilot study. The significant frequency rate of presented pathological CNV.
Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, CzechoslovakiaKleefstra syndrome: Impact on parents.
Disability and health journalEHMT1 regulates Parvalbumin-positive interneuron development and GABAergic input in sensory cortical areas.
Brain structure & functionImpairments in sensory-motor gating and information processing in a mouse model of Ehmt1 haploinsufficiency.
Brain and neuroscience advancesPosterior thoracolumbar fusion in a patient with Kleefstra Syndrome related scoliosis: The first case reported.
Journal of clinical orthopaedics and traumaOlfactory Malformations in Mendelian Disorders of the Epigenetic Machinery.
Frontiers in cell and developmental biologyAnesthetic Management of an Infant With Kleefstra Syndrome During Direct Laryngoscopy and Rigid Bronchoscopy: A Case Report.
A&A practiceThe Object Space Task reveals increased expression of cumulative memory in a mouse model of Kleefstra syndrome.
Neurobiology of learning and memoryAlternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses.
Genetics in medicine : official journal of the American College of Medical GeneticsKMT2C/D COMPASS complex-associated diseases [KCDCOM-ADs]: an emerging class of congenital regulopathies.
Clinical epigeneticsDistinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype.
Cell reportsOtopathology in Kleefstra Syndrome: A Case Report.
The LaryngoscopeNeuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling.
Nature communications[Kleefstra syndrome 1 and ring chromosome 9 in a case].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.
NeurogeneticsA long noncoding RNA cluster-based genomic locus maintains proper development and visual function.
Nucleic acids researchChromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France.
Prenatal diagnosisHistone 4 Lysine 20 Methylation: A Case for Neurodevelopmental Disease.
BiologyShone's complex in a patient with chromosome 9q34.3 deletion (Kleefstra syndrome).
Cardiology in the youngNew Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature Review.
Cytogenetic and genome researchHypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association.
Case reports in endocrinologyFetal valproate syndrome as a phenocopy of Kleefstra syndrome.
Birth defects researchPulmonary hypertension in patients with 9q34.3 microdeletion-associated Kleefstra syndrome.
American journal of medical genetics. Part AIncreased H3K9 methylation and impaired expression of Protocadherins are associated with the cognitive dysfunctions of the Kleefstra syndrome.
Nucleic acids researchBiochemical validation of EHMT1 missense mutations in Kleefstra syndrome.
Journal of human geneticsEHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction.
Molecular autismKleefstra Syndrome: The First Case Report From Iran.
Acta medica Iranica[Clinical and genetic analysis of a boy with 9q34.3 microdeletion syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsFirst prenatal diagnosis of a 'pure' 9q34.3 deletion (Kleefstra syndrome): A case report and literature review.
The journal of obstetrics and gynaecology researchEpigenetic Etiology of Intellectual Disability.
The Journal of neuroscience : the official journal of the Society for NeuroscienceFunctional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.
PLoS geneticsAltered neurite morphology and cholinergic function of induced pluripotent stem cell-derived neurons from a patient with Kleefstra syndrome and autism.
Translational psychiatryGenotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.
European journal of medical geneticsSleep Disturbance as a Precursor of Severe Regression in Kleefstra Syndrome Suggests a Need for Firm and Rapid Pharmacological Treatment.
Clinical neuropharmacologyAdaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities.
American journal of medical genetics. Part AA novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation.
Molecular genetics & genomic medicineA de novo splice site mutation in EHMT1 resulting in Kleefstra syndrome with pharmacogenomics screening and behavior therapy for regressive behaviors.
Molecular genetics & genomic medicineHaploinsufficiency of EHMT1 improves pattern separation and increases hippocampal cell proliferation.
Scientific reportsA Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding.
The Journal of biological chemistryIncreased first-trimester nuchal translucency associated with a dicentric chromosome and 9q34.3 microdeletion syndrome.
Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and GynaecologyTargeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance.
GeneEstablishment of EHMT1 mutant induced pluripotent stem cell (iPSC) line from a 11-year-old Kleefstra syndrome (KS) patient with autism and normal intellectual performance.
Stem cell researchEuchromatin histone methyltransferase 1 regulates cortical neuronal network development.
Scientific reportsHistone Methylation by the Kleefstra Syndrome Protein EHMT1 Mediates Homeostatic Synaptic Scaling.
NeuronDeep brain stimulation for autism spectrum disorders.
Neurosurgical focusMultiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome.
Case reports in geneticsReversible white matter lesions associated with mutant EHMT1 and Kleefstra syndrome.
Neurology. GeneticsKleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype.
Molecular cytogeneticsCharacterization of a Complex Chromosomal Rearrangement Involving a de novo Duplication of 9p and 9q and a Deletion of 9q.
Cytogenetic and genome researchTWINS WITH KLEEFSTRA SYNDROME DUE TO CHROMOSOME 9q34.3 MICRODELETION.
Genetic counseling (Geneva, Switzerland)Expanding the phenotypic profile of Kleefstra syndrome: A female with low-average intelligence and childhood apraxia of speech.
American journal of medical genetics. Part AA structured assessment of motor function and behavior in patients with Kleefstra syndrome.
European journal of medical geneticsKleefstra-variant syndrome with heterozygous mutations in EHMT1 and KCNQ2 genes: a case report.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyPregnancy with de novo 9q34.3 microdeletion and Kleefstra syndrome in the fetus may be associated with an abnormal maternal serum screening result.
Taiwanese journal of obstetrics & gynecologyDeep brain stimulation for the obsessive-compulsive and Tourette-like symptoms of Kleefstra syndrome.
Neurosurgical focusLow-level mosaicism of a de novo derivative chromosome 9 from a t(5;9)(q35.1;q34.3) has a major phenotypic impact.
European journal of medical geneticsPrenatal diagnosis of a female fetus with ring chromosome 9, 46,XX,r(9)(p24q34), and a de novo interstitial 9p deletion.
Cytogenetic and genome researchAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Keeping up the beat of Kleefstra syndrome.
- International Clinical Evidence-based Guideline for Kleefstra Syndrome.Genetics in medicine : official journal of the American College of Medical Genetics· 2026· PMID 41578867mais citado
- The Infant and Toddler Developmental Profile of Kleefstra Syndrome.
- Genotype-phenotype correlations in 9q34.3 microdeletion syndrome: a study of 35 Mainland Chinese patients.
- Characterizing healthcare resource utilization in two rare diseases (Kleefstra syndrome and SLC6A1 epileptic encephalopathy) using multimodal real-world data.
- Novel Variants in KMT2C Further Support a Neurodevelopmental Disorder Distinct From Kleefstra and Kabuki Syndromes.
- Kmt2c/Mll3 Haploinsufficiency Causes Autism-like Behavioral Deficits in Mice.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:261494(Orphanet)
- MONDO:0012455(MONDO)
- GARD:8672(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q4646476(Wikidata)
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.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
