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

• Published in: BMC pediatrics Vol. 18; no. 1; p. 171
• Main Authors: Suzuki, Noriomi, Mutai, Hideki, Miya, Fuyuki, Tsunoda, Tatsuhiko, Terashima, Hiroshi, Morimoto, Noriko, Matsunaga, Tatsuo
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 23.05.2018; BioMed Central; BMC
• Subjects: Age; Case Report; Case reports; Case studies; Congenital diseases; Delayed myelination; Deoxyribonucleic acid; DNA; Exons; Families & family life; Gene mutations; Genes; Hearing loss; Humans; Infant; Klein-Waardenburg syndrome; Male; Medical imaging; Mutation; NMR; Nonsense mutation; Nuclear magnetic resonance; Seizure attack; Seizures (Medicine); Seizures - etiology; SOX10; SOXE Transcription Factors - genetics; Waardenburg syndrome; Waardenburg Syndrome - complications; Waardenburg Syndrome - diagnosis; Waardenburg Syndrome - genetics; United States > US; Seizure attack; Delayed myelination; Nonsense mutation; Waardenburg syndrome; SOX10

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. This report describes a patient with WS1 who harbored a novel SOX10 n...