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Waardenburg syndrome type 2

MedGen UID:
398443
Concept ID:
C2700265
Disease or Syndrome
Synonyms: Waardenburg Syndrome Type II; WS type 2
SNOMED CT: Waardenburg syndrome type 2 (1010636000); Waardenburg syndrome type II (1010636000)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Related genes: SOX10, MITF
 
Monarch Initiative: MONDO:0019517
Orphanet: ORPHA895

Definition

An autosomal dominant subtype of Waardenburg syndrome (WS) with characteristics of varying degrees of deafness and pigmentation anomalies of eyes, hair and skin but without dystopia canthorum. The disease is genetically very heterogeneous, mutations have been found in MITF (3p14-p13; subtype designated as WS2A), SNAI2 (8q11.21; WS2D), and SOX10 (22q13.1; WS2E) genes. Furthermore WS2 loci have been mapped to chromosome 1p21-p13.3 (subtype designated as WS2B) and to chromosome 8p23 (designated as WS2C). Digenic inheritance of MITF mutation in combination a TYR mutation (and/or the TYRR402Q hypomorphic allele) has been reported in two families with WS2 and ocular albinism. In the majority of cases, WS2 is transmitted as an autosomal dominant disorder with a large variable inter and intrafamilial expressivity. Some affected patients present with a de novo mutation. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Waardenburg syndrome type 2 in Orphanet.

Professional guidelines

PubMed

Sun L, Li X, Shi J, Pang X, Hu Y, Wang X, Wu H, Yang T
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Recent clinical studies

Etiology

Pingault V, Zerad L, Bertani-Torres W, Bondurand N
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Diagnosis

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Therapy

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Prognosis

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Clinical prediction guides

Pingault V, Zerad L, Bertani-Torres W, Bondurand N
J Med Genet 2022 Feb;59(2):105-114. Epub 2021 Oct 19 doi: 10.1136/jmedgenet-2021-108105. PMID: 34667088Free PMC Article
Ren S, Chen X, Kong X, Chen Y, Wu Q, Jiao Z, Shi H
Mol Genet Genomic Med 2020 Mar;8(3):e1128. Epub 2020 Jan 20 doi: 10.1002/mgg3.1128. PMID: 31960627Free PMC Article
Wang XP, Liu YL, Mei LY, He CF, Niu ZJ, Sun J, Zhao YL, Feng Y, Zhang H
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PLoS One 2013;8(10):e77149. Epub 2013 Oct 23 doi: 10.1371/journal.pone.0077149. PMID: 24194866Free PMC Article
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Jpn J Ophthalmol 2003 Jan-Feb;47(1):77-84. doi: 10.1016/s0021-5155(02)00629-9. PMID: 12586183

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