Mental retardation syndrome associated with homozygous med25 mutation

Abstract

Basel Vanagaite Smirin Yosef syndrome is a rare genetic mental deficiency syndrome caused by an autosomal recessive mutation of the MED 25 gene. Features such as severe physical and psychomotor retardation, microcephaly, visual pathologies such as congenital cataracts, congenital heart defects, genitourinary anomalies, musculoskeletal pathologies, variable craniofacial signs and seizures are common clinical features in most patients. This article describes Basel Vanagaite Smirin Yosef syndrome with a p.(C.518 T>C p.Ile173Thr) homozygous mutation in MED25 using exome sequencing.