title: Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome.
abstract: The Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial clefts, preauricular sinuses, hearing loss, and renal anomalies. Recent studies have shown that mutations in EYA1 are associated with BOR. However, the underlying molecular mechanisms by which mutations in the EYA1 gene cause BOR syndrome are unknown. We have investigated 12 unrelated Caucasian families for mutations by heteroduplex analysis and direct sequencing of products from the polymerase chain reaction. In this study, we identified two novel frameshift deletions and a single base substitution that introduces a stop codon mutation in the C-terminal region of the EYA1 gene. No obvious relationships were observed between the nature of the mutations and the variable clinical features associated with BOR syndrome.
authors.affiliation: Department of Genetics, Center for Hereditary and Communication Disorders, Boys Town National Research Hospital, Omaha, Nebraska 68131, USA. Kumar@boystown.org
authors.forename: S
authors.initials: S
authors.lastname: Kumar
authors.forename: W J
authors.initials: WJ
authors.lastname: Kimberling
authors.forename: M D
authors.initials: MD
authors.lastname: Weston
authors.forename: B G
authors.initials: BG
authors.lastname: Schaefer
authors.forename: M A
authors.initials: MA
authors.lastname: Berg
authors.forename: H A
authors.initials: HA
authors.lastname: Marres
authors.forename: C W
authors.initials: CW
authors.lastname: Cremers
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D019280:Branchio-Oto-Renal Syndrome / Q000235:genetics*; D017931:DNA Primers; D005091:Exons; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009687:Nuclear Proteins; D010375:Pedigree; D017027:Protein Tyrosine Phosphatases; D015534:Trans-Activators / Q000235:genetics*
chemical_list: D017931:DNA Primers; D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D015534:Trans-Activators; C104381:EYA1 protein, human; D017027:Protein Tyrosine Phosphatases