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College of Medicine/School of Medicine (의과대학/대학원)
Dept. of Biochemistry & Molecular Biology (생화학교실)
Journal Papers (저널논문_생화학교실)
Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea
- Authors
- Lim, Bung Chan ; Ki, Chang-Seok ; Kim, Jong-Won ; Cho, Anna ; Hwang, Hee ; Hwang, Yong Seung ; Lim, Yun-Jung ; Lee, Jun Su ; Chae, Jong Hee ; Kim, In One ; Park, Woong Yang ; Kim, Ki Joong ; Kim, Min Jung
- Issue Date
- 2010-08
- Publisher
- PERGAMON-ELSEVIER SCIENCE LTD
- Citation
- NEUROMUSCULAR DISORDERS; Vol.20 8; 524-530
- Keywords
- Muscular dystrophy ; Congenital ; Dystroglycan ; Mutation
- Abstract
- This study was aimed to identify Fukutin (FKTN)-related congenital muscular dystrophies (CMD) with defective a-dystroglycan glycosylation in Korea and to discuss their genotype-phenotype spectrum focusing on detailed brain magnetic resonance imaging (MRI) findings. FKTN mutations were found in nine of the 12 CMD patients with defective a-dystroglycan glycosylation patients (75%). Two patients were homozygous for the Japanese founder retrotransposal insertion mutation. Seven patients were heterozygous for the retrotransposal insertion mutation, five of whom carried a novel intronic mutation that activates a pseudoexon between exons 5 and 6 (c.647+2084G>T). Compared with individuals that were homozygous for the retrotransposal insertion mutation, the seven heterozygotes for the retrotransposal insertion mutation, including five patients with the novel pseudoexon mutation, exhibited a more severe clinical phenotype in terms of motor abilities and more extensive brain MRI abnormalities (i.e., a wider distribution of cortical malformation and pons and cerebellar hypoplasia). FKTN mutations are the most common genetic cause of CMD with defective a-dystroglycan glycosylation in Korea. Compound heterozygosity of the retrotransposal insertion and the novel pseudoexon mutation is the most prevalent genotype in Korea and is associated with a more severe clinical and radiological phenotype compared with homozygosity for the retrotransposal insertion mutation. (C) 2010 Elsevier B.V. All rights reserved.
- ISSN
- 0960-8966
- Language
- English
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