PMID: 9450866Feb 5, 1998Paper

Piebaldism with deafness: molecular evidence for an expanded syndrome

American Journal of Medical Genetics
R A Spritz, P Beighton

Abstract

In a South African girl of Xhosa stock with severe piebaldism and profound congenital sensorineural deafness we identified a novel missense substitution at a highly conserved residue in the intracellular kinase domain of the KIT proto-oncogene, R796G. Though auditory anomalies have been observed in mice with dominant white spotting (W) due to KIT mutations, deafness is not typical in human piebaldism. Thus, the occurrence of sensorineural deafness in this patient extends considerably the phenotypic range of piebaldism due to KIT gene mutation in humans and tightens the clinical similarity between piebaldism and the various forms of Waardenburg syndrome.

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Citations

Sep 4, 2013·BioMed Research International·Yong-jia YangYi-min Zhu
Oct 16, 2004·International Journal of Dermatology·Isabelle ThomasRobert A Schwartz
May 19, 2009·American Journal of Medical Genetics. Part a·Yuri A ZarateRobert J Hopkin
May 28, 2005·Human Reproduction Update·Deepti Goswami, Gerard S Conway
Feb 23, 2007·Nature·Jennifer Y Lin, David E Fisher
Aug 3, 2014·G3 : Genes - Genomes - Genetics·Victor A DavidDavid K Ryugo
Mar 24, 2017·British Journal of Cancer·Olli-Pekka PulkkaHarri Sihto
Aug 3, 2002·BMC Women's Health·Kyoko ShibanumaLawrence M Nelson
Sep 10, 2014·Journal of the European Academy of Dermatology and Venereology : JEADV·X-H XuH Xing
Nov 14, 2000·American Journal of Medical Genetics·P SyrrisK Metcalfe
Jun 4, 2010·Nature Structural & Molecular Biology·Rong HuangPhilip A Cole
Aug 2, 2005·Hearing Research·Takeyuki FujimuraYoshiaki Doi
Mar 4, 2006·Science·Yingfeng QiaoPhilip A Cole

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