A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease.
Cochlear implant
SOX10
Waardenburg syndrome
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
05 2020
05 2020
Historique:
received:
14
11
2019
revised:
31
01
2020
accepted:
14
02
2020
pubmed:
10
3
2020
medline:
13
1
2021
entrez:
10
3
2020
Statut:
ppublish
Résumé
Waardenburg syndrome (WS) is a group of genetic disorders associated with varying components of sensorineural hearing loss and abnormal pigmentation of the hair, skin, and eyes. There exist four different WS subtypes, each defined by the absence or presence of additional features. One of the genes associated with WS is SOX10, a key transcription factor for the development of neural crest-derived lineages. Here we report a 12-year-old boy with a novel de novo SOX10 frameshift mutation and unique combination of clinical features including primary peripheral demyelinating neuropathy, hearing loss and visual impairment but absence of Hirschsprung disease and the typical pigmentary changes of hair or skin. This expands the spectrum of currently recognized phenotypes associated with WS and illustrates the phenotypic heterogeneity of SOX10-associated WS.
Identifiants
pubmed: 32150337
doi: 10.1002/ajmg.a.61542
pmc: PMC7167353
mid: NIHMS1574236
doi:
Substances chimiques
SOX10 protein, human
0
SOXE Transcription Factors
0
Types de publication
Case Reports
Research Support, N.I.H., Intramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
1278-1283Subventions
Organisme : Intramural NIH HHS
ID : Z99 HG999999
Pays : United States
Informations de copyright
© 2020 Wiley Periodicals, Inc.
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