title: Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome.
abstract: In addition to craniofacial, auricular, ophthalmologic, and oral anomalies, the distinctive phenotype of the branchio-oculo-facial (BOF) syndrome (MIM 113620) includes skin defects in the neck or infra/supra-auricular region. These unusual areas of thin, erythematous wrinkled skin differ from the discrete cervical pits, cysts, and fistulas of the branchio-oto-renal (BOR) syndrome (MIM 113650). Although the BOF and BOR syndromes are sufficiently distinctive that they should not be confused, both can be associated with nasolacrimal duct stenosis, deafness, prehelical pits, malformed pinna, and renal anomalies. Furthermore, a reported father and son [Legius et al., 1990, Clin Genet 37:347-500] had features of both conditions. It was not clear whether they had an atypical presentation of either BOR or BOF syndrome, or represented a private syndrome. In light of these issues, we selected the BOR locus (EYA1) as a possible gene mutation for the BOF syndrome. In five BOF patients, there were no mutations detected in the EYA1 gene, suggesting that it is not allelic to the BOR syndrome.
authors.affiliation: Genetics and Teratology Unit, Pediatric Service, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. lin.angela@mgh.harvard.edu
authors.forename: A E
authors.initials: AE
authors.lastname: Lin
authors.forename: E V
authors.initials: EV
authors.lastname: Semina
authors.forename: S
authors.initials: S
authors.lastname: Daack-Hirsch
authors.forename: E R
authors.initials: ER
authors.lastname: Roeder
authors.forename: C J
authors.initials: CJ
authors.lastname: Curry
authors.forename: K
authors.initials: K
authors.lastname: Rosenbaum
authors.forename: D D
authors.initials: DD
authors.lastname: Weaver
authors.forename: J C
authors.initials: JC
authors.lastname: Murray
mesh_terms: D019280:Branchio-Oto-Renal Syndrome / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D009687:Nuclear Proteins; D017027:Protein Tyrosine Phosphatases; D015534:Trans-Activators / Q000235:genetics*
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D015534:Trans-Activators; C104381:EYA1 protein, human; D017027:Protein Tyrosine Phosphatases