title: A 725 kb deletion at 22q13.1 chromosomal region including SOX10 gene in a boy with a neurologic variant of Waardenburg syndrome type 2.
abstract: Waardenburg syndrome (WS) is a rare (1/40,000) autosomal dominant disorder resulting from melanocyte defects, with varying combinations of sensorineural hearing loss and abnormal pigmentation of the hair, skin, and inner ear. WS is classified into four clinical subtypes (WS1-S4). Six genes have been identified to be associated with the different subtypes of WS, among which SOX10, which is localized within the region 22q13.1. Lately it has been suggested that whole SOX10 gene deletions can be encountered when testing for WS. In this study we report a case of a 13-year-old boy with a unique de novo 725 kb deletion within the 22q13.1 chromosomal region, including the SOX10 gene and presenting clinical features of a neurologic variant of WS2.
authors: Eurogenetica S.A., Adrianoupoleos 7, GR-55133 Thessaloniki, Greece. cytogenetics@eurogenetica.gr
authors: Elisavet
authors: E
authors: Siomou
authors: Emmanouil
authors: E
authors: Manolakos
authors: Michael
authors: M
authors: Petersen
authors: Loretta
authors: L
authors: Thomaidis
authors: Yolanda
authors: Y
authors: Gyftodimou
authors: Sandro
authors: S
authors: Orru
authors: Ioannis
authors: I
authors: Papoulidis
mesh_terms: D000293:Adolescent; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D006801:Humans; D008297:Male; D055757:SOXE Transcription Factors / Q000235:genetics*; D014849:Waardenburg Syndrome / Q000175:diagnosis / Q000235:genetics*
chemical_list: C527923:SOX10 protein, human; D055757:SOXE Transcription Factors