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ABCD syndrome is caused by a homozygous mutation in theEDNRB gene

✍ Scribed by Verheij, Joke B.G.M. ;Kunze, J�rgen ;Osinga, Jan ;van Essen, Anthonie J. ;Hofstra, Robert M.W.

Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 106 KB
Volume: 108
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.10172

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✦ Synopsis

Abstract

ABCD syndrome is an autosomal recessive syndrome characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut (Hirschsprung disease [HSCR]), and deafness. This phenotype clearly overlaps with the features of the Shah‐Waardenburg syndrome, comprising sensorineural deafness; hypopigmentation of skin, hair, and irides; and HSCR. Therefore, we screened DNA of the index patient of the ABCD syndrome family for mutations in the endothelin B receptor (EDNRB) gene, a gene known to be involved in Shah‐Waardenburg syndrome. A homozygous nonsense mutation in exon 3 (R201X) of the EDNRB gene was found. We therefore suggest that ABCD syndrome is not a separate entity, but an expression of Shah‐Waardenburg syndrome. © 2002 Wiley‐Liss, Inc.

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