<i>SOX10</i> mutation in Waardenburg syndrome type II

Iso, Manami; Fukami, Maki; Horikawa, Reiko; Azuma, Noriyuki; Kawashiro, Nobuko; Ogata, Tsutomu

doi:10.1002/ajmg.a.32403

Cited by 30 publications

(18 citation statements)

References 9 publications

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“…In this regard, the so-called mild form of the Yemenite syndrome, due to a missense SOX10 mutation [Bondurand et al, 1999], can in fact be considered as a WS2 (possibly with a very mild neurological involvement, as nystagmus was reported). Other groups confirmed the occurrence of point mutations in WS2 or in PCW [Barnett et al, 2009;Iso et al, 2008;Sznajer et al, 2008]. Apart from the neurological signs of PCW/PCWH, other nonspecific features are associated with SOX10 mutations.…”

Section: Sox10mentioning

confidence: 51%

Review and update of mutations causing Waardenburg syndrome

et al. 2010

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Waardenburg syndrome (WS) is characterized by the association of pigmentation abnormalities, including depigmented patches of the skin and hair, vivid blue eyes or heterochromia irides, and sensorineural hearing loss. However, other features such as dystopia canthorum, musculoskeletal abnormalities of the limbs, Hirschsprung disease, or neurological defects are found in subsets of patients and used for the clinical classification of WS. Six genes are involved in this syndrome: PAX3 (encoding the paired box 3 transcription factor), MITF (microphthalmia-associated transcription factor), EDN3 (endothelin 3), EDNRB (endothelin receptor type B), SOX10 (encoding the Sry bOX10 transcription factor), and SNAI2 (snail homolog 2), with different frequencies. In this review we provide an update on all WS genes and set up mutation databases, summarize molecular and functional data available for each of them, and discuss the applications in diagnostics and genetic counseling.

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Section: Sox10mentioning

confidence: 51%

Review and update of mutations causing Waardenburg syndrome

et al. 2010

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“…Analysis of the age of onset revealed HL being mostly pre-lingual (≤4 years, 65 detected between the age of 5 and 11 years (five bilateral profound, one unilateral profound, one unilateral moderate), but could be present at younger age. No significant relationship between the presence or absence of HL and gender could be detected (p = 0.18).…”

Section: Auditory Phenotype In Wsmentioning

confidence: 99%

Hearing loss in Waardenburg syndrome: a systematic review

et al. 2015

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Waardenburg syndrome (WS) is a rare genetic disorder characterized by hearing loss (HL) and pigment disturbances of hair, skin and iris. Classifications exist based on phenotype and genotype. The auditory phenotype is inconsistently reported among the different Waardenburg types and causal genes, urging the need for an up-to-date literature overview on this particular topic. We performed a systematic review in search for articles describing auditory features in WS patients along with the associated genotype. Prevalences of HL were calculated and correlated with the different types and genes of WS. Seventy-three articles were included, describing 417 individual patients. HL was found in 71.0% and was predominantly bilateral and sensorineural. Prevalence of HL among the different clinical types significantly differed (WS1: 52.3%, WS2: 91.6%, WS3: 57.1%, WS4: 83.5%). Mutations in SOX10 (96.5%), MITF (89.6%) and SNAI2 (100%) are more frequently associated with hearing impairment than other mutations. Of interest, the distinct disease-causing genes are able to better predict the auditory phenotype compared with different clinical types of WS. Consequently, it is important to confirm the clinical diagnosis of WS with molecular analysis in order to optimally inform patients about the risk of HL.

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“…Autosomal dominant forms are caused by mutations in the heterozygous state in EDN3, EDNRB, or SOX10 [Pingault et al, 1998[Pingault et al, , 2001[Pingault et al, , 2002Southard-Smith et al, 1999;Syrris et al, 1999;Sham et al, 2001;Mor ın et al, 2008]. Mutations affecting SOX10 result in a great phenotypic variability, including not only the canonical WS4, but ranging from the more severe PCWH phenotype (Peripheral demyelinating neuropathy, Central dysmyelinating leukodystrophy, and Waardenburg-Hirschsprung features, OMIM 609136) [Inoue et al, 1999[Inoue et al, , 2002[Inoue et al, , 2004Pingault et al, 2000;Touraine et al, 2000;Verheij et al, 2006] to milder forms with only pigmentary abnormalities and sensorineural hearing impairment, but no Hirschsprung disease [Bondurand et al, 1999[Bondurand et al, , 2007Iso et al, 2008]. Here we report on two Spanish cases of WS4, with novel mutations in the EDN3 and SOX10 genes, respectively, further illustrating the genetic and phenotypic heterogeneity of this syndrome.…”

mentioning

confidence: 97%