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

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Apaydın H., Benbir Şenel G.

HEREDITARY GENET, cilt.3, sa.1, ss.1000110-1000111, 2012 (Hakemli Dergi)

• Yayın Türü: Makale / Tam Makale
• Cilt numarası: 3 Sayı: 1
• Basım Tarihi: 2012
• Doi Numarası: 10.4172/2161-1041.1000110
• Dergi Adı: HEREDITARY GENET
• Derginin Tarandığı İndeksler: Other Indexes
• Sayfa Sayıları: ss.1000110-1000111
• Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
• İstanbul Üniversitesi-Cerrahpaşa Adresli: Evet

Özet

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