Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome

Virginie S Vervoort; Richard J H Smith; Jane O'Brien; Richard Schroer; Albert Abbott; Roger E Stevenson; Charles E Schwartz

doi:10.1038/sj.ejhg.5200877

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$Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome$

Journal article

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Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome

Virginie S Vervoort, Richard J H Smith, Jane O'Brien, Richard Schroer, Albert Abbott, Roger E Stevenson and Charles E Schwartz

European journal of human genetics : EJHG, Vol.10(11), pp.757-766

11/2002

DOI: 10.1038/sj.ejhg.5200877

PMID: 12404110

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Abstract

Branchio-Oto-Renal (BOR) syndrome is transmitted as an autosomal dominant disorder, affects an estimated 2% of profoundly deaf children, and is caused by mutations in the human EYA1 gene. However, in up to half of the reported cases, EYA1 mutation screening is negative. This finding has been taken as evidence of genetic heterogeneity. Mutation screening of the coding region of EYA1 in a panel of families linked to chromosome 8 was conducted using SSCP and direct sequencing. Only one point mutation in five probands was detected. However, complex rearrangements, such as inversions or large deletions, were discovered in the other four patients using Southern blot analysis. These data suggest that more complex rearrangements may remain undetected in EYA1 since SSCP and sequencing were commonly used to detect mutations in this gene.

Blotting, Southern

Sequence Deletion

Humans

Intracellular Signaling Peptides and Proteins

Male

Chromosome Inversion

Sequence Analysis, DNA

Blotting, Western

Nuclear Proteins

Polymorphism, Single-Stranded Conformational

Pedigree

Branchio-Oto-Renal Syndrome - genetics

Trans-Activators - genetics

Female

Protein Tyrosine Phosphatases

Details

Title: Subtitle: Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome
Creators: Virginie S Vervoort - Department of Genetics and Biochemistry, Clemson University, Clemson, SC 29654, USA
Richard J H Smith
Jane O'Brien
Richard Schroer
Albert Abbott
Roger E Stevenson
Charles E Schwartz
Resource Type: Journal article
Publication Details: European journal of human genetics : EJHG, Vol.10(11), pp.757-766
DOI: 10.1038/sj.ejhg.5200877
PMID: 12404110
NLM abbreviation: Eur J Hum Genet
ISSN: 1018-4813
eISSN: 1476-5438
Publisher: England
Language: English
Date published: 11/2002
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: 9984006420002771

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