ABCD syndrome is caused by a homozygous mutation in the EDNRB gene
Article first published online: 17 JAN 2002
Copyright © 2002 Wiley-Liss, Inc.
American Journal of Medical Genetics
Volume 108, Issue 3, pages 223–225, 15 March 2002
How to Cite
Verheij, J. B.G.M., Kunze, J., Osinga, J., van Essen, A. J. and Hofstra, R. M.W. (2002), ABCD syndrome is caused by a homozygous mutation in the EDNRB gene. Am. J. Med. Genet., 108: 223–225. doi: 10.1002/ajmg.10172
- Issue published online: 25 FEB 2002
- Article first published online: 17 JAN 2002
- Manuscript Accepted: 7 OCT 2001
- Manuscript Received: 2 JAN 2001
- ABCD syndrome;
- Shah-Waardenburg syndrome;
- EDNRB gene
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.