Ontology highlight
ABSTRACT:
SUBMITTER: Suzuki N
PROVIDER: S-EPMC5966879 | biostudies-literature | 2018 May
REPOSITORIES: biostudies-literature
Suzuki Noriomi N Mutai Hideki H Miya Fuyuki F Tsunoda Tatsuhiko T Terashima Hiroshi H Morimoto Noriko N Matsunaga Tatsuo T
BMC pediatrics 20180523 1
<h4>Background</h4>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.<h4>Case presentation</h4>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 patient had mild prodromal neurological symptoms that were followed by s ...[more]