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    Am J Med Genet. 2002 Mar 15;108(3):223-5.

    ABCD syndrome is caused by a homozygous mutation in the EDNRB gene.

    Verheij JB, Kunze J, Osinga J, van Essen AJ, Hofstra RM.

    Department of Medical Genetics, University of Groningen, Groningen, The Netherlands. J.B.G.M.Verheij@medgen.azg.nl

    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.

    PMID: 11891690 [PubMed - indexed for MEDLINE]

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