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Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences
Journal article   Peer reviewed

Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences

Eugene H Chang, Maithilee Menezes, Nicole C Meyer, Robert A Cucci, Virginie S Vervoort, Charles E Schwartz and Richard J H Smith
Human mutation, Vol.23(6), pp.582-589
06/2004
DOI: 10.1002/humu.20048
PMID: 15146463

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Abstract

EYA1 mutations cause branchio-oto-renal (BOR) syndrome. These mutations include single nucleotide transitions and transversions, small duplications and deletions, and complex genomic rearrangements. The last cannot be detected by coding sequence analysis of EYA1. We sought to refine the clinical diagnosis of BOR syndrome by analyzing phenotypic data from families segregating EYA1 disease-causing mutations. Based on genotype-phenotype analyses, we propose new criteria for the clinical diagnosis of BOR syndrome. We found that in approximately 40% of persons meeting our criteria, EYA1 mutations were identified. Of these mutations, 80% were coding sequence variants identified by SSCP, and 20% were complex genomic rearrangements identified by a semiquantitative PCR-based screen. We conclude that genetic testing of EYA1 should include analysis of the coding sequence and a screen for complex rearrangements.
 Phenotype Polymerase Chain Reaction Mutation Branchio-Oto-Renal Syndrome - diagnosis Genetic Testing Humans Intracellular Signaling Peptides and Proteins Male Nuclear Proteins Polymorphism, Single-Stranded Conformational DNA Mutational Analysis Branchio-Oto-Renal Syndrome - genetics Trans-Activators - genetics Female Protein Tyrosine Phosphatases

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