How to cite this article: Kochhar A, Fischer SM, Kimberling WJ, Smith RJH. 2007. Branchio-oto-renal syndrome. Am J Med Genet Part A 143A:1671–1678.
Version of Record online: 19 JAN 2007
Copyright © 2007 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Special Issue: The Genetic Basis of Deafness
Volume 143A, Issue 14, pages 1671–1678, 15 July 2007
How to Cite
Kochhar, A., Fischer, S. M., Kimberling, W. J. and Smith, R. J.H. (2007), Branchio-oto-renal syndrome. Am. J. Med. Genet., 143A: 1671–1678. doi: 10.1002/ajmg.a.31561
- Issue online: 21 JUN 2007
- Version of Record online: 19 JAN 2007
- Manuscript Accepted: 1 OCT 2006
- Manuscript Received: 31 JUL 2006
- NIH. Grant Number: DC03544
- branchio-otic syndrome 1;
- BOS3 branchio-oto-renal syndrome;
- BOR syndrome;
- hearing loss;
- syndromic hearing loss;
Branchio-oto-renal syndrome, a phenotype consisting of hearing loss, auricular malformations, branchial arch remnants, and renal anomalies is now recognized as one of the more common forms of autosomal dominant syndromic hearing impairment. Three loci known to be associated with the BOR phenotype have been identified and two genes that act in a regulatory network have been cloned, EYA1 and SIX1. EYA1 and SIX1 are homologous to genes involved in Drosophila eye development, eyes absent gene (eya), and sine oculis(so), respectively. EYA1, a transcriptional co-activator has a conserved, 271-amino acid, C-terminal known as the Eya Domain (ED). SIX1 has two highly conserved domains; a homeodomain (HD) and a specific Six-domain (SD) whose products function as transcription factors with specific DNA-binding activity that are crucial for protein–protein interaction. To determine the molecular basis for the organ defects that occur in BOR syndrome, many studies have focused on the effects of mutations to EYA and effects of mutations of the EYA-SIX regulatory system. However, over 60% of BOR syndrome patients do not have known mutations in EYA1 and relatively little is known about mutations to SIX1. Further evaluation of SIX1 and its related target genes may provide a better understanding of the pathophysiology of BOR syndrome and offer greater clues to the disease mechanisms. © 2007 Wiley-Liss, Inc.