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Novel nonsense mutation of the endothelin-B receptor gene in a family with Waardenburg-Hirschsprung disease

Syrris, P; Carter, ND; Patton, MA; (1999) Novel nonsense mutation of the endothelin-B receptor gene in a family with Waardenburg-Hirschsprung disease. AM J MED GENET , 87 (1) 69 - 71.

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Abstract

Waardenburg syndrome (WS) comprises sensorineural hearing loss, hypopigmentation of skin and hair, and pigmentary disturbances of the irides. Four types of WS have been classified to date; in WS type IV (WS4), patients additionally have colonic aganglionosis (Hirschsprung disease, HSCR). Mutations in the endothelin-3 (EDN3), endothelin-B receptor (EDNRB), and Sox10 genes have been identified as causative for WS type IV, We screened a family with a combined WS-HSCR phenotype for mutations in the EDNRB locus using standard DNA mutation analysis and sequencing techniques. We have identified a novel nonsense mutation at codon 253 (CGA-->TGA, Arg-->STOP). This mutation leads to a premature end of the translation of EDNRB at exon 3, and it is predicted to produce a truncated and nonfunctional endothelin-B receptor. All affected relatives were heterozygous for the Arg(253)-->STOP mutation, whereas it was not observed in over 50 unrelated individuals used as controls. These data confirm the role of EDNRB in the cause of the Waardenburg-Hirschsprung syndrome and demonstrate that in WS-HSCR there is a lack of correlation between phenotype and genotype and a variable expression of disease even within the same family, Am. J. Med. Genet. 87:69-71, 1999. (C) 1999 Wiley-Liss, Inc.

Type:Article
Title:Novel nonsense mutation of the endothelin-B receptor gene in a family with Waardenburg-Hirschsprung disease
Keywords:Waardenburg syndrome, Hirschsprung disease, endothelin-B receptor gene, nonsense mutation
UCL classification:UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science

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