Τίτλος:
A 725 kb deletion at 22q13.1 chromosomal region including SOX10 gene in a boy with a neurologic variant of Waardenburg syndrome type 2
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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. © 2012 Elsevier Masson SAS.
Συγγραφείς:
Siomou, E.
Manolakos, E.
Petersen, M.
Thomaidis, L.
Gyftodimou, Y.
Orru, S.
Papoulidis, I.
Περιοδικό:
European Journal of Medical Genetics
Λέξεις-κλειδιά:
transcription factor Sox10, adolescent; aggression; article; case report; chromosome 22q; comparative genomic hybridization; copy number variation; disease association; gene deletion; gene location; genetic analysis; hostility; human; male; neurologic disease; real time polymerase chain reaction; speech disorder; Waardenburg syndrome; waardenburg syndrome type 2, Adolescent; Chromosome Deletion; Chromosomes, Human, Pair 22; Humans; Male; SOXE Transcription Factors; Waardenburg Syndrome
DOI:
10.1016/j.ejmg.2012.07.002
