Identification of a novel mutation in a Korean patient with oculopharyngeal muscular dystrophy

• Published in: Journal of clinical neuroscience Vol. 14; no. 1; pp. 89 - 92
• Main Authors: Bae, Jong Seok, Ki, Chang-Seok, Kim, Jong-Won, Kim, Byoung Joon
• Format: Journal Article
• Language: English
• Published: Scotland Elsevier Ltd 01.01.2007
• Subjects: Blepharoptosis - etiology; Deglutition Disorders - etiology; Deglutition Disorders - therapy; DNA Transposable Elements; Exons - genetics; Humans; Korea; Male; Middle Aged; Muscular dystrophy; Muscular Dystrophy, Oculopharyngeal - complications; Muscular Dystrophy, Oculopharyngeal - diagnosis; Muscular Dystrophy, Oculopharyngeal - genetics; Mutation; Mutation - physiology; Neurology; Oculopharyngeal; PABPN1; Pedigree; Poly(A)-Binding Protein II - genetics; Trinucleotide Repeats; Korea; Mutation; PABPN1; Oculopharyngeal; Muscular dystrophy; Korea
• ISSN: 0967-5868; 1532-2653
• DOI: 10.1016/j.jocn.2005.12.036

Abstract Oculopharyngeal muscular dystrophy (OPMD) is a late-onset muscle disorder characterized by progressive dysphagia and bilateral ptosis. Mutations in the polyadenylate binding protein nuclear 1 ( PABPN1 ) gene have been found to cause OPMD. The typical mutation is a stable trinucleotide repeat expansion in the first exon of the PABPN1 gene, in which (GCG)6 is the normal repeat length. We investigated a Korean patient with OPMD and identified a novel mutation: a heterozygous insertion of a 9-bp sequence [(GCG)(GCA)(GCA); c.27_28insGCGGCAGCA] instead of the (GCG) repeat expansion, resulting in an in-frame insertion of three alanines (p.A10insAAA). To the best of our knowledge, this is the first report of a genetically confirmed case of OPMD in Korea.