Genética hereditaria: investigación actual

Abstracto

A Novel Mutation in Exon 6 of the Epsilon-Sarcoglycan Gene in Myoclonus Dystonia Syndrome

Hulya Apaydin, Gulcin Benbir, Laurie Ozelius and Sibel Ozekmekci

Abstract
Myoclonus-dystonia syndrome (MDS) is a rare hereditary movement disorder characterized by the early onset of myoclonus in the first or second decade of life. The first locus for MDS was mapped to chromosome 7q21 and identified as the epsilon-sarcoglycan (SGCE) gene, and numerous mutations were subsequently identified. We here present the first reported Turkish MDS patient identified with a novel mutation in exon 6 of the SGCE gene, which resulted in truncation of the protein before the transmembrane domain, presumably causing the loss of function either by mislocalization of the protein away from the plasma membrane or through nonsense-mediated decay.