Autosomal Recessive Trait of UMOD Gene in Consanguineous Family Presented with End Stage Renal Disease

Abdulmecit Yildiz, Orhan Goruk

Abstract

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.