A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease.

American Journal of Medical Genetics. Part a
Elizabeth A BurkeDavid Adams

Abstract

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.

References

Aug 1, 1997·Journal of Medical Genetics·A P Read, V E Newton
Feb 14, 1998·Nature Genetics·V PingaultM Goossens
Mar 19, 2008·American Journal of Medical Genetics. Part a·Yves SznajerRenaud L Touraine
Feb 12, 2009·American Journal of Medical Genetics. Part a·C P BarnettW Reardon
Feb 4, 2010·Human Mutation·Véronique PingaultNadège Bondurand
May 12, 2011·JAMA : the Journal of the American Medical Association·William A Gahl, Cynthia J Tifft
Jan 13, 2012·Genetics in Medicine : Official Journal of the American College of Medical Genetics·William A GahlDavid Adams
Feb 6, 2016·Molecular Genetics and Metabolism·William A GahlUNKNOWN for Members of the UDN
Aug 19, 2016·Nature·Monkol LekUNKNOWN Exome Aggregation Consortium
May 24, 2017·Neurology. Genetics·Sandra DonkervoortCarsten G Bönnemann

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