CASE REPORT OF A NOVEL MUTATION OF THE EYA1 GENE
IN A PATIENT WITH BRANCHIO-OTO-RENAL SYNDROME
Spahiu L, Merovci B, Ismaili Jaha V, Batalli Këpuska A, Jashari H
*Corresponding Author: Dr. Besart Merovci, Pediatric Clinic, University Clinical Center of Kosovo, Pristina, Republic
of Kosovo. Tel: +377-44-161-538. E-mail: m_besart@hotmail.com
page: 91
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INTRODUCTION
Branchio-oto-renal (BOR) syndrome is an autosomal
dominant disorder characterized by the coexistence of
branchial cysts or fistulae, external ear malformation with
pre-auricular pits or tags, hearing impairment and renal
malformations. However, the presence of the main features
varies in affected families [1]. Unilateral agenesis or unibilateral
hypoplasia are the most common renal abnormalities
that can lead to end-stage renal disease (ESRD). We
here present a 16-year-old boy with ESRD from a Kosovar
family with BOR syndrome.
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