Young woman with branchio-oto-renal syndrome and a novel mutation in the EYA-1 gene
Nardi, E.; Palermo, A.; Cusimano, P.; Mulè, G.; Cerasola, G.
Clinical Nephrology 76(4): 330-333
2011
ISSN/ISBN: 0301-0430 PMID: 21955869 Document Number: 651750
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.