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: Joke B G M Verheij, Jürgen Kunze, Jan Osinga, Anthonie J van Essen, Robert M W Hofstra
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 108 Issue 3 Pg. 223-5 (Mar 15 2002) ISSN: 0148-7299 [Print] United States
• PMID: 11891690 (Publication Type: Case Reports, Journal Article)

Chemical References

• DNA-Binding Proteins
• Endothelin-3
• High Mobility Group Proteins
• Receptor, Endothelin B
• Receptors, Endothelin
• SOX10 protein, human
• SOXE Transcription Factors
• Transcription Factors
• DNA

Topics

• Abnormalities, Multiple (genetics, pathology)
• Albinism (pathology)
• Base Sequence
• Consanguinity
• DNA (chemistry, genetics)
• DNA Mutational Analysis
• DNA-Binding Proteins (genetics)
• Deafness (pathology)
• Endothelin-3 (genetics)
• Fatal Outcome
• Female
• High Mobility Group Proteins (genetics)
• Hirschsprung Disease (pathology)
• Homozygote
• Humans
• Hypopigmentation (pathology)
• Infant
• Mutation
• Phenotype
• Receptor, Endothelin B
• Receptors, Endothelin (genetics)
• SOXE Transcription Factors
• Syndrome
• Transcription Factors
• Waardenburg Syndrome (genetics)