title: ABCD syndrome is caused by a homozygous mutation in the EDNRB gene.
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.
authors.affiliation: Department of Medical Genetics, University of Groningen, Groningen, The Netherlands. J.B.G.M.Verheij@medgen.azg.nl
authors.forename: Joke B G M
authors.initials: JB
authors.lastname: Verheij
authors.forename: Jürgen
authors.initials: J
authors.lastname: Kunze
authors.forename: Jan
authors.initials: J
authors.lastname: Osinga
authors.forename: Anthonie J
authors.initials: AJ
authors.lastname: van Essen
authors.forename: Robert M W
authors.initials: RM
authors.lastname: Hofstra
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000417:Albinism / Q000473:pathology*; D001483:Base Sequence; D003241:Consanguinity; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics; D003638:Deafness / Q000473:pathology*; D019334:Endothelin-3 / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D006609:High Mobility Group Proteins / Q000235:genetics; D006627:Hirschsprung Disease / Q000473:pathology; D006720:Homozygote; D006801:Humans; D017496:Hypopigmentation / Q000473:pathology; D007223:Infant; D009154:Mutation; D010641:Phenotype; D044023:Receptor, Endothelin B; D017466:Receptors, Endothelin / Q000235:genetics*; D055757:SOXE Transcription Factors; D013577:Syndrome; D014157:Transcription Factors; D014849:Waardenburg Syndrome / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; D019334:Endothelin-3; D006609:High Mobility Group Proteins; D044023:Receptor, Endothelin B; D017466:Receptors, Endothelin; C527923:SOX10 protein, human; D055757:SOXE Transcription Factors; D014157:Transcription Factors; D004247:DNA