title: Young woman with branchio-oto-renal syndrome and a novel mutation in the EYA-1 gene.
abstract: Branchio-oto-renal (BOR) syndrome is an autosomal dominant disease clinically characterized by the coexistence of some or all of the following major disorders: deafness, cervical branchial fistulae, preauricular pits, and renal abnormalities. Most families with BOR syndrome have mutations on the EYA-1 gene on chromosome 8q. We present the case of a 23-year-old Italian woman without a familial history of BOR syndrome. The patient, who had hearing loss and a history of surgeries for correction of bilateral cervical branchial fistulae and bilateral preauricular pits, presented with renal impairment, hypertension and overt proteinuria. DNA sequencing showed a novel heterozygous mutation 1420-1421delCC in exon 14 of EYA-1 gene.
authors.affiliation: Cattedra di Medicina Interna, Dipartimento di Medicina Interna, Malattie Cardiovascolari e NefroUrologiche, Excellence Center of the European Society of Hypertension, Università degli Studi di Palermo, Italy. emilionardi@virgilio.it
authors.forename: E
authors.initials: E
authors.lastname: Nardi
authors.forename: A
authors.initials: A
authors.lastname: Palermo
authors.forename: P
authors.initials: P
authors.lastname: Cusimano
authors.forename: G
authors.initials: G
authors.lastname: Mulè
authors.forename: G
authors.initials: G
authors.lastname: Cerasola
mesh_terms: D019280:Branchio-Oto-Renal Syndrome / Q000000981:diagnostic imaging / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography; D055815:Young Adult
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; C104381:EYA1 protein, human; D017027:Protein Tyrosine Phosphatases