We report a consanguineous family with Uromodulin mutation with autosomal recessive pattern which is not reported before in the literature. Twenty six years of male diagnosed with end stage renal disease of unknown etiology had a history of dialysis in his mother, maternal aunt and his maternal grandfather. In genetic analysis by Sanger sequencing a homozygous missense variation, c.263G>A/ p.Gly88Asp in UMOD (NM_003361) gene has been detected. In summary, we report a novel UMOD mutation in a Turkish family with autosomal recessive trait.
Abdulmecit Yildiz, Orhan Gorukmez, Aysegul Oruc, Cuma Bulent Gul, Suat Akgur, Oktay Unsal, M Fethullah Aydin and Alparslan Ersoy
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