Branchio-oto-renal syndrome

Amit Kochhar; Stephanie M Fischer; William J Kimberling; Richard J H Smith

doi:10.1002/ajmg.a.31561

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Journal article

Peer reviewed

Branchio-oto-renal syndrome

Amit Kochhar, Stephanie M Fischer, William J Kimberling and Richard J H Smith

American journal of medical genetics. Part A, Vol.143A(14), pp.1671-1678

07/15/2007

DOI: 10.1002/ajmg.a.31561

PMID: 17238186

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Abstract

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.

Genetic Predisposition to Disease - genetics

Protein Tyrosine Phosphatases - genetics

Branchio-Oto-Renal Syndrome - genetics

Humans

Branchio-Oto-Renal Syndrome - pathology

Mutation

Nuclear Proteins - genetics

Intracellular Signaling Peptides and Proteins - genetics

Homeodomain Proteins - genetics

Details

Title: Subtitle: Branchio-oto-renal syndrome
Creators: Amit Kochhar - Molecular Otolaryngology Research Laboratories, University of Iowa, Iowa City, Iowa 52242, USA
Stephanie M Fischer
William J Kimberling
Richard J H Smith
Resource Type: Journal article
Publication Details: American journal of medical genetics. Part A, Vol.143A(14), pp.1671-1678
DOI: 10.1002/ajmg.a.31561
PMID: 17238186
NLM abbreviation: Am J Med Genet A
ISSN: 1552-4825
eISSN: 1552-4833
Publisher: United States
Grant note: DC03544 / NIDCD NIH HHS
Language: English
Date published: 07/15/2007
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
Record Identifier: 9984006427302771

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