6533b872fe1ef96bd12d2ff8
RESEARCH PRODUCT
Young woman with Branchio-Oto-Renal Syndrome and a novel mutation in the EYA-1 gene
Alessandro PalermoEmilio NardiGiovanni CerasolaGiuseppe MulèPaola Cusimanosubject
Pathologymedicine.medical_specialtyHearing lossmedicine.disease_causeDiagnosis DifferentialYoung AdultExonChronic kidney diseaseCase reportmedicineHumansUltrasonographyBranchio-oto-renal syndromeMutationProteinuriabusiness.industryBranchio-oto-renal syndromeIntracellular Signaling Peptides and ProteinsNuclear ProteinsChromosomeAutosomal dominant traitGeneral MedicineEYA-1medicine.diseaseNephrologyMutationPreauricular pitFemaleProtein Tyrosine Phosphatasesmedicine.symptomTomography X-Ray Computedbusinessdescription
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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2011-09-30 |