A síndrome de Waardenburg tipo 2 (WS2) é um subtipo autossômico dominante da síndrome de Waardenburg (WS), caracterizada por vários graus de surdez e anomalias de pigmentação dos olhos, cabelos e pele, mas sem distopia canthorum.
Introdução
O que você precisa saber de cara
A síndrome de Waardenburg tipo 2 (WS2) é um subtipo autossômico dominante da síndrome de Waardenburg (WS), caracterizada por vários graus de surdez e anomalias de pigmentação dos olhos, cabelos e pele, mas sem distopia canthorum.
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
+ 11 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 41 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
6 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.
Transcription factor that plays a central role in developing and mature glia (By similarity). Specifically activates expression of myelin genes, during oligodendrocyte (OL) maturation, such as DUSP15 and MYRF, thereby playing a central role in oligodendrocyte maturation and CNS myelination (By similarity). Once induced, MYRF cooperates with SOX10 to implement the myelination program (By similarity). Transcriptional activator of MITF, acting synergistically with PAX3 (PubMed:21965087). Transcript
CytoplasmNucleusMitochondrion outer membrane
Waardenburg syndrome 2E
An autosomal dominant auditory-pigmentary disorder characterized by sensorineural deafness, pigmentary disturbances of the hair, skin and eyes, and absence of dystopia canthorum which is the lateral displacement of the inner canthus of each eye. Individuals with WS2E may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Some patients can manifest features of Kallmann syndrome.
Non-specific receptor for endothelin 1, 2, and 3. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system
Cell membrane
Waardenburg syndrome 4A
A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease).
This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyzes the initial and rate limiting step in the cascade of reactions leading to melanin production from tyrosine (By similarity). In addition to hydroxylating tyrosine to DOPA (3,4-dihydroxyphenylalanine), also catalyzes the oxidation of DOPA to DOPA-quinone, and possibly the oxidation of DHI (5,6-dihydroxyindole) to indole-5,6 quinone (PubMed:28661582)
Melanosome membraneMelanosome
Albinism, oculocutaneous, 1A
An autosomal recessive disorder in which the biosynthesis of melanin pigment is absent in skin, hair, and eyes. It is characterized by complete lack of tyrosinase activity due to production of an inactive enzyme. Patients present with a life-long absence of melanin pigment after birth, and manifest increased sensitivity to ultraviolet radiation with predisposition to skin cancer. Visual anomalies include decreased acuity, nystagmus, strabismus and photophobia.
Ligand for the receptor-type protein-tyrosine kinase KIT. Plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. KITLG/SCF binding can activate several signaling pathways. Promotes phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, and subsequent activation of the kinase AKT1. KITLG/SCF and KIT also transmit signals via
Cell membraneCytoplasmCytoplasm, cytoskeletonCell projection, lamellipodiumCell projection, filopodiumSecreted
Hyperpigmentation with or without hypopigmentation, familial progressive
A disorder characterized by hyperpigmented patches in the skin, present in early infancy and increasing in size and number with age. Hyperpigmentation has variable intensity, and sometimes is associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules.
Transcription factor that acts as a master regulator of melanocyte survival and differentiation as well as melanosome biogenesis (PubMed:10587587, PubMed:22647378, PubMed:27889061, PubMed:9647758). Binds to M-boxes (5'-TCATGTG-3') and symmetrical DNA sequences (E-boxes) (5'-CACGTG-3') found in the promoter of pigmentation genes, such as tyrosinase (TYR) (PubMed:10587587, PubMed:22647378, PubMed:27889061, PubMed:9647758). Involved in the cellular response to amino acid availability by acting down
NucleusCytoplasmLysosome membrane
Waardenburg syndrome 2A
WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1.
Transcriptional repressor that modulates both activator-dependent and basal transcription. Involved in the generation and migration of neural crest cells. Plays a role in mediating RAF1-induced transcriptional repression of the TJ protein, occludin (OCLN) and subsequent oncogenic transformation of epithelial cells (By similarity). Represses BRCA2 expression by binding to its E2-box-containing silencer and recruiting CTBP1 and HDAC1 in breast cells. In epidermal keratinocytes, binds to the E-box
NucleusCytoplasm
Waardenburg syndrome 2D
WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1.
Variantes genéticas (ClinVar)
427 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 1,460 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
23 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 Waardenburg tipo 2
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Publicações mais relevantes
A novel frameshift mutation of SOX10 identified in Waardenburg syndrome type 2.
Waardenburg syndrome type 2 (WS2) is an autosomal dominant disorder characterized by congenital sensorineural hearing loss, blue iris, and abnormal pigmentation of the hair and skin. WS2 is genetically heterogeneous, often resulting from pathogenic mutations in SOX10 gene. We identified a novel heterozygous frameshift mutation in SOX10 (NM_006941.4: c.22delT, p.S8Rfs*5) in a two-generation Chinese family with WS2 through whole exome sequencing. This mutation was present in both the proband, who exhibited typical features of hearing loss and pigmentation abnormalities, and his father, who showed only mild facial features. Quantitative real-time PCR revealed that the frameshift mutation leads to a reduced expression levels of SOX10 in the peripheral blood of mutation carriers. Our findings expand the spectrum of pathogenic mutations in SOX10 associated with WS2, providing valuable information for prenatal diagnosis and preimplantation screening, and underscore the role of genetic diagnosis in identifying atypical patients.
Clinical Characteristics and Identification of Pathogenic Variant in a Large Chinese Family With Waardenburg Syndrome.
Waardenburg syndrome is a genetic disorder characterized by sensorineural hearing loss and abnormal pigmentation. This study aims to explore the pathogenic variant in a large Waardenburg syndrome family and provide a theoretical basis for prenatal diagnosis of related family members. The clinical phenotype of the family members was analyzed. DNA was extracted from collected peripheral blood samples, and then exome sequencing and Sanger sequencing were performed. The pathogenicity of the genetic variant was evaluated by bioinformatics analysis. Amniocentesis was performed on the proband's mother (III13) to collect amniotic fluid samples for prenatal diagnosis. There were 13 patients in the family. Most of the patients presented with deafness and abnormal pigmentation of hair or eyes, which was consistent with the diagnosis of Waardenburg syndrome type 2. Exome sequencing revealed a heterozygous variant of the SOX10 gene (NM_006941.4: c.386T>C (p.Leu129Pro)) in the proband. Sanger sequencing showed that the variant co-segregated with the disorder in this family. This variant has not been previously reported in relevant databases. The site p.Leu129 was highly conserved among various species and was important for protein structure and function. In this study, we reported a family with autosomal dominant Waardenburg syndrome type 2 and identified a heterozygous variant of the SOX10 gene by exome sequencing. In addition, prenatal diagnosis and genetic counseling were provided to the family related individual.
Identification of the Mitf gene mutation causing congenital deafness and pigmentation disorders in porcupines using BSA-Seq.
Worldwide, congenital deafness and pigmentation disorders impact millions with their diverse manifestations, and among these genetic conditions, mutations in the Microphthalmia-associated transcription factor (MITF: OMIM#156845) gene are notable for their profound effects on melanocyte development and auditory functions. This study reports a novel porcupine model exhibiting spontaneous deafness and pigmentation abnormalities reminiscent of human Waardenburg Syndrome Type 2 (WS2: OMIM#193510). Through phenotypic characterization, including coat color, skin, eye morphology, and auditory brainstem response (ABR) assessments, we identified hypopigmentation and complete deafness in mutant porcupines. To pinpoint the genetic basis, a breeding program was established, and Bulk Segregant Analysis (BSA) combined with RNA sequencing was conducted. Primers based on the identified candidate genes were designed for PCR amplification, followed by verification through Sanger sequencing. Through BSA analysis, we identified a total of 88 SNP and 336 InDel candidate sites. By annotating the Mitf gene, we obtained four unique transcript sequences. The SNP and InDel sites within the porcupine Mitf gene sequence, identified through BSA screening, were analyzed in conjunction with the gene's annotation results. This analysis revealed a specific mutation site, Mitf c.875_877delGAA p. (Arg217del), which was subsequently verified by Sanger sequencing. This naturally occurring Mitf mutation in porcupines provides a valuable model for studying the mechanisms underlying WS2 and exploring potential therapeutic strategies for deafness and pigmentation-related disorders.
Asymmetric preservation of choroidal pigmentation simulating choroidal nevus in two siblings with Waardenburg syndrome type 2A.
In addition to sensorineural hearing loss, Waardenburg Syndrome (WS) may present with variable pigmentation of skin and choroid, which may simulate other life-threating conditions (e.g. melanoma). Two siblings ostensibly presented with unilateral choroidal pigmentary abnormalities concerning for choroidal tumour. Serial ophthalmic examination documented no lesion growth (base or height) whilst the apparent syndromic features (i.e. iris hypochromia, profound sensorineural hearing loss, SNHL), family history (autosomal dominant inheritance) and positive genetic testing (pathogenic MITF variant) led to a revised diagnosis of Waardenburg Syndrome type 2A. Sectoral preservation of choroidal pigmentation in WS is rarely associated with choroidal malignancy. Awareness of syndromic features (e.g. SNHL) and access to genetic testing may facilitate early accurate diagnosis (i.e. allay concern for malignancy), enable treatment of modifiable features (e.g. SNHL) and identify other affected relatives.
Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.
Waardenburg syndrome type 2 (WS2) has been reported to be a rare hereditary disorder, which is distinguished by vivid blue eyes, varying degrees of hearing impairment, and abnormal pigment deposition in the skin and hair. Variants in the sex-determining region Y-box containing gene 10 (SOXl0) gene may cause congenital deafness and have been demonstrated to be important during the development of WS2. Complete clinical data of the proband and her family members (her parents and 2 sisters) was collected and physical examinations were performed in the hospital. The laboratory examination including hemoglobin, Coomb's test, urine protein, ENA, autoimmune hepatitis-related autoantibodies and ultrasonography were all conducted. We obtained the peripheral blood samples from all the participants and performed whole exome sequencing and sanger sequencing validation. The present study identified a family of 5 members, and only the proband exhibited typical WS2. Beyond the characteristics of WS2, the proband also manifested absence of puberty. The proband and her younger sister manifested systemic lupus erythematosus (SLE). Whole exome sequencing revealed a de novo variant in the SOX10 gene. The variant c.175 C > T was located in exon 2 of the SOX10 gene, which is anticipated to result in early termination of protein translation. The present study is the first to report a case of both WS2 and SLE, and the present findings may provide a new insight into WS2.
Publicações recentes
Clinical Characteristics and Identification of Pathogenic Variant in a Large Chinese Family With Waardenburg Syndrome.
A novel frameshift mutation of SOX10 identified in Waardenburg syndrome type 2.
Identification of the Mitf gene mutation causing congenital deafness and pigmentation disorders in porcupines using BSA-Seq.
Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.
A novel SOX10 mutation causing Waardenburg syndrome type 2 by expressing a truncated and dysfunctional protein in a Chinese child.
📚 EuropePMC37 artigos no totalmostrando 63
Clinical Characteristics and Identification of Pathogenic Variant in a Large Chinese Family With Waardenburg Syndrome.
Molecular genetics & genomic medicineA novel frameshift mutation of SOX10 identified in Waardenburg syndrome type 2.
Human molecular geneticsIdentification of the Mitf gene mutation causing congenital deafness and pigmentation disorders in porcupines using BSA-Seq.
Scientific reportsAsymmetric preservation of choroidal pigmentation simulating choroidal nevus in two siblings with Waardenburg syndrome type 2A.
Ophthalmic geneticsWaardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.
BMC medical genomicsA novel SOX10 mutation causing Waardenburg syndrome type 2 by expressing a truncated and dysfunctional protein in a Chinese child.
Molecular biology reportsWaardenburg Syndrome Type 2 in Paediatrics: A Case Highlighting Diagnostic Complexities and the Efficacy of Cochlear Implantation.
Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of IndiaA novel frameshift mutation in SOX10 gene induced Waardenburg syndrome type II.
Molecular genetics & genomic medicineA De Novo Mutation in SOX10 in a Chinese Boy with Waardenburg Syndrome Type 2.
The journal of international advanced otology[Analysis of clinical phenotype and genetic variants among four Chinese pedigrees affected with Waardenburg syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsDiagnosis and genetic analysis of a case of Waardenburg syndrome type 2 with hypogonadotropic hypogonadism caused by SOX10 gene deletion.
Yi chuan = HereditasA unique hyperdynamic dimer interface permits small molecule perturbation of the melanoma oncoprotein MITF for melanoma therapy.
Cell researchBiallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss.
Journal of the European Academy of Dermatology and Venereology : JEADVSOX10: 20 years of phenotypic plurality and current understanding of its developmental function.
Journal of medical geneticsA Novel Frameshift Variant of the MITF Gene in a Chinese Family with Waardenburg Syndrome Type 2.
Molecular syndromologyIdentification of novel MITF mutations in Chinese families with Waardenburg syndrome type II.
Molecular genetics & genomic medicineIdentification of a novel heterozygous mutation in the MITF gene in an Iranian family with Waardenburg syndrome type II using next-generation sequencing.
Journal of clinical laboratory analysisA de novo mutation of the SOX10 gene associated with inner ear malformation in a Guangxi family with Waardenburg syndrome type II.
International journal of pediatric otorhinolaryngologyPhenotypic similarities in pigs with SOX10c.321dupC and SOX10c.325A>T mutations implied the correlation of SOX10 haploinsufficiency with Waardenburg syndrome.
Journal of genetics and genomics = Yi chuan xue baoKallmann Syndrome Due to Heterozygous Mutation in SOX10 Coexisting With Waardenburg Syndrome Type II: Case Report and Review of Literature.
Frontiers in endocrinologyFrameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant.
PloS oneCan Waardenburg syndrome type 2 be explained by epigenetic mosaicism?
American journal of medical genetics. Part AWaardenburg syndrome type II in a Chinese pedigree caused by frameshift mutation in the SOX10 gene.
Bioscience reportsTargeted next-generation sequencing identified a novel variant of SOX10 in a Chinese family with Waardenburg syndrome type 2.
The Journal of international medical researchA follow-up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene.
Molecular genetics & genomic medicineA Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II.
Neural plasticityNovel mutations of SOX10 gene in Chinese patients with type II Waardenburg syndrome.
International journal of pediatric otorhinolaryngologyIncomplete penetrance of MITF gene c.943C>T mutation in an extended family with Waardenburg syndrome type II.
International journal of pediatric otorhinolaryngologyVisual Dermatology: Waardenburg Syndrome Type II.
Journal of cutaneous medicine and surgeryIdentification of six novel variants in Waardenburg syndrome type II by next-generation sequencing.
Molecular genetics & genomic medicineA rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772C>T (p.Arg259*) in the MITF gene in Yakut patient from the Eastern Siberia (Sakha Republic, Russia).
International journal of circumpolar health[Prenatal diagnosis of a novel SOX10 mutation in a patient with syndromic hearing loss].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsTeaching NeuroImages: Waardenburg syndrome type 2.
NeurologyA novel dominant mutation in the SOX10 gene in a Chinese family with Waardenburg syndrome type II.
Molecular medicine reportsA homozygous MITF mutation leads to familial Waardenburg syndrome type 4.
American journal of medical genetics. Part AWaardenburg syndrome type 2.
Medical journal, Armed Forces IndiaA Comprehensive Genetic and Clinical Evaluation of Waardenburg Syndrome Type II in a Set of Iranian Patients.
International journal of molecular and cellular medicineBiallelic deletions of the Waardenburg II syndrome gene, SOX10, cause a recognizable arthrogryposis syndrome.
American journal of medical genetics. Part AA case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10.
BMC pediatricsWardenburg syndrome type 2 in a woman with no genomic mutation commonly associated with the syndrome.
Dermatology online journalWnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations.
Journal of human genetics[Analysis of SOX10 gene mutation in a family affected with Waardenburg syndrome type II].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsFirst Report of Prenatal Ascertainment of a Fetus With Homozygous Loss of the SOX10 Gene and Phenotypic Correlation by Autopsy Examination.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyWaardenburg syndrome type IIE in a Japanese patient caused by a novel non-frame-shift duplication mutation in the SOX10 gene.
The Journal of dermatologyIdentification of a Novel De Novo Heterozygous Deletion in the SOX10 Gene in Waardenburg Syndrome Type II Using Next-Generation Sequencing.
Genetic testing and molecular biomarkersFunctional analysis of a SOX10 gene mutation associated with Waardenburg syndrome II.
Biochemical and biophysical research communicationsA Novel Pathogenic Variant in the MITF Gene Segregating with a Unique Spectrum of Ocular Findings in an Extended Iranian Waardenburg Syndrome Kindred.
Molecular syndromologyPigmented macules in Waardenburg syndrome type 2 due to KITLG mutation.
Pigment cell & melanoma researchFunctional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2.
Journal of human geneticsEDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.
Human mutation[Clinical and genetic investigation of families with Waardenburg syndrome type 2].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgeryMolecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome.
Scientific reports[Molecular pathogenesis of Waardenburg syndrome type II resulting from SOX10 gene mutation].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsWaardenburg syndrome type II in a Chinese patient caused by a novel nonsense mutation in the SOX10 gene.
International journal of pediatric otorhinolaryngologyA novel mutation of the MITF gene in a family with Waardenburg syndrome type 2: A case report.
Experimental and therapeutic medicineClinical and genetic investigation of families with type II Waardenburg syndrome.
Molecular medicine reports[Clinical classification and genetic mutation study of two pedigrees with type II Waardenburg syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsAllelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.
American journal of human geneticsWaardenburg syndrome type 2: an orthodontic perspective.
Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologieWaardenburg syndrome type IIE in a Japanese patient caused by a novel missense mutation in the SOX10 gene.
The Journal of dermatologyHeterozygous deletion at the SOX10 gene locus in two patients from a Chinese family with Waardenburg syndrome type II.
International journal of pediatric otorhinolaryngology[Phenotypic and genetic analysis of a patient presented with Tietz/Waardenburg type II a syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsGenetic counseling for a three-generation Chinese family with Waardenburg syndrome type II associated with a rare SOX10 mutation.
International journal of pediatric otorhinolaryngologyAssociações
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Comunidades
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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.
- A novel frameshift mutation of SOX10 identified in Waardenburg syndrome type 2.
- Clinical Characteristics and Identification of Pathogenic Variant in a Large Chinese Family With Waardenburg Syndrome.
- Identification of the Mitf gene mutation causing congenital deafness and pigmentation disorders in porcupines using BSA-Seq.
- Asymmetric preservation of choroidal pigmentation simulating choroidal nevus in two siblings with Waardenburg syndrome type 2A.
- Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.
- A novel SOX10 mutation causing Waardenburg syndrome type 2 by expressing a truncated and dysfunctional protein in a Chinese child.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:895(Orphanet)
- MONDO:0019517(MONDO)
- GARD:5520(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
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.
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