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Waardenburg syndrome

Waardenburg syndrome: a rare cause of inherited neuropathy due to SOX10 mutation.
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Waardenburg syndrome: a rare cause of inherited neuropathy due to SOX10 mutation.

J Peripher Nerv Syst. 2017 May 22;:

Authors: Bogdanova-Mihaylova P, Alexander MD, Murphy RP, Murphy SM

Abstract
Waardenburg syndrome (WS) is a rare disorder comprising sensorineural deafness and pigmentation abnormalities. Four distinct subtypes are defined based on the presence or absence of additional symptoms. Mutations in six genes have been described in WS. SOX10 mutations are usually associated with a more severe phenotype of WS with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy and Hirschsprung disease. Here we report a 32 year-old man with a novel heterozygous missense variant in SOX10 gene, who presented with congenital deafness, Hirschsprung disease, iris heterochromia, foot deformity and intermediate conduction velocity length-dependent sensorimotor neuropathy. This case highlights that the presence of other non-neuropathic features in a patient with presumed hereditary neuropathy should alert the clinician to possible atypical rare causes.

PMID: 28544110 [PubMed - as supplied by publisher]

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