title: Identification of a novel mutation in a Korean patient with oculopharyngeal muscular dystrophy.
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.
authors.affiliation: Department of Neurology, Seoul Medical Center, Seoul, Korea.
authors.forename: Jong Seok
authors.initials: JS
authors.lastname: Bae
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.forename: Jong-Won
authors.initials: JW
authors.lastname: Kim
authors.forename: Byoung Joon
authors.initials: BJ
authors.lastname: Kim
mesh_terms: D001763:Blepharoptosis / Q000209:etiology; D004251:DNA Transposable Elements; D003680:Deglutition Disorders / Q000209:etiology / Q000628:therapy; D005091:Exons / Q000235:genetics; D006801:Humans; D007723:Korea; D008297:Male; D008875:Middle Aged; D039141:Muscular Dystrophy, Oculopharyngeal / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation / Q000502:physiology*; D010375:Pedigree; D039103:Poly(A)-Binding Protein II / Q000235:genetics*; D018911:Trinucleotide Repeats
chemical_list: D004251:DNA Transposable Elements; D039103:Poly(A)-Binding Protein II