Pediatric case report: Clinical profile of a patient with <scp>PCWH</scp> with p.<scp>Q</scp>377<scp>X</scp> nonsense mutation in the <i><scp>SOX</scp>10</i> gene

Oshimo, Tomoko; Fukai, Kazuyoshi; Abe, Yuko; Hozumi, Yasukazu; Yokoi, Toshiaki; Tanaka, Akemi; Yamanishi, Kiyofumi; Ishii, Masamitsu; Suzuki, Tamio

doi:10.1111/j.1346-8138.2012.01671.x

Cited by 3 publications

(3 citation statements)

References 15 publications

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“…, a flow diagram of the search process is depicted. Out of the 246 potentially eligible articles based on title and abstract, 73 articles met the inclusion criteria and were included in the analysis . One article fulfilled the inclusion criteria, but was not included in the analysis because the patient suffered from a second genetic disorder that could as well result in HL .…”

Section: Resultsmentioning

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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Section: Resultsmentioning

confidence: 99%

Hearing loss in Waardenburg syndrome: a systematic review

et al. 2015

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“…Many subjects classified as WS2 with SOX10 mutations have severe constipation or neurological symptoms . Hypopigmented macules might be a feature suggestive of WS associated with SOX10 mutations, rather than the classical midline depigmentation; however, a white forelock is still often reported …”

Section: Piebaldism and Waardenburg Syndromementioning

confidence: 99%

“…49,164,165 Hypopigmented macules might be a feature suggestive of WS associated with SOX10 mutations, rather than the classical midline depigmentation; however, a white forelock is still often reported. 166 i Tietz syndrome is caused by a heterozygous mutation in exon 7 of MITF. Unlike Waardenburg syndrome, skin melanocyte density is normal (suggesting that the migration of melanocyte precursors during embryogenesis is normal).…”

Section: (A) (B)mentioning

confidence: 99%

Biology of human melanocyte development, Piebaldism, and Waardenburg syndrome

Saleem

2018

Pediatric Dermatology

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Melanocyte development is orchestrated by a complex interconnecting regulatory network of genes and synergistic interactions. Piebaldism and Waardenburg syndrome are neurocristopathies that arise from mutations in genes involved in this complex network. Our understanding of melanocyte development, Piebaldism, and Waardenburg syndrome has improved dramatically over the past decade. The diagnosis and classification of Waardenburg syndrome, first proposed in 1992 and based on phenotype, have expanded over the past three decades to include genotype. This review focuses on the current understanding of human melanocyte development and the evaluation and management of Piebaldism and Waardenburg syndrome. Management is often challenging and requires a multidisciplinary approach.

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Targeted Next-Generation Sequencing Identifies Separate Causes of Hearing Loss in One Deaf Family and Variable Clinical Manifestations for the p.R161C Mutation inSOX10

Lin

2020

Neural Plasticity

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Hearing loss is the most common sensory deficit in humans. Identifying the genetic cause and genotype-phenotype correlation of hearing loss is sometimes challenging due to extensive clinical and genetic heterogeneity. In this study, we applied targeted next-generation sequencing (NGS) to resolve the genetic etiology of hearing loss in a Chinese Han family with multiple affected family members. Targeted sequencing of 415 deafness-related genes identified the heterozygous c.481C>T (p.R161C) mutation in SOX10 and the homozygous c.235delC (p.L79Cfs∗3) mutation in GJB2 as separate pathogenic mutations in distinct affected family members. The SOX10 c.481C>T (p.R161C) mutation has been previously reported in a Caucasian patient with Kallmann syndrome that features congenital hypogonadotropic hypogonadism with anosmia. In contrast, family members carrying the same p.R161C mutation in this study had variable Waardenburg syndrome-associated phenotypes (hearing loss and/or hair hypopigmentation) without olfactory or reproductive anomalies. Our results highlight the importance of applying comprehensive diagnostic approaches such as NGS in molecular diagnosis of hearing loss and show that the p.R161C mutation in SOX10 may be associated with a wide range of variable clinical manifestations.

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Pediatric case report: Clinical profile of a patient with PCWH with p.Q377X nonsense mutation in the SOX10 gene

Cited by 3 publications

References 15 publications

Hearing loss in Waardenburg syndrome: a systematic review

Hearing loss in Waardenburg syndrome: a systematic review

Biology of human melanocyte development, Piebaldism, and Waardenburg syndrome

Targeted Next-Generation Sequencing Identifies Separate Causes of Hearing Loss in One Deaf Family and Variable Clinical Manifestations for the p.R161C Mutation inSOX10

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