Article
A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10.
BMC pediatrics - 23 May 2018
Suzuki Noriomi, Mutai Hideki, Miya Fuyuki, Tsunoda Tatsuhiko, Terashima Hiroshi, Morimoto Noriko, Matsunaga Tatsuo
Abstract excerpt
BACKGROUND: Waardenburg syndrome type 1 (WS1) can be distinguished from Waardenburg syndrome type 2 (WS2) by the presence of dystopia canthorum. About 96% of WS1 are due to PAX3 mutations, and SOX10 mutations have been reported in 15% of WS2. CASE PRESENTATION: This report describes a patient with WS1 who harbored a novel SOX10 nonsense mutation (c.652G > T, p.G218*) in exon 3 which is the penultimate exon. The...
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