Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea
- Authors
- Lim, BC[Lim, Bung Chan]; Ki, CS[Ki, Chang-Seok]; Kim, JW[Kim, Jong-Won]; Cho, A[Cho, Anna]; Kim, MJ[Kim, Min Jung]; Hwang, H[Hwang, Hee]; Kim, KJ[Kim, Ki Joong]; Hwang, YS[Hwang, Yong Seung]; Park, WY[Park, Woong Yang]; Lim, YJ[Lim, Yun-Jung]; Kim, IO[Kim, In One]; Lee, JS[Lee, Jun Su]; Chae, JH[Chae, Jong Hee]
- Issue Date
- Aug-2010
- Publisher
- PERGAMON-ELSEVIER SCIENCE LTD
- Keywords
- Muscular dystrophy; Congenital; Mutation; Dystroglycan
- Citation
- NEUROMUSCULAR DISORDERS, v.20, no.8, pp.524 - 530
- Indexed
- SCIE
SCOPUS
- Journal Title
- NEUROMUSCULAR DISORDERS
- Volume
- 20
- Number
- 8
- Start Page
- 524
- End Page
- 530
- URI
- https://scholarworks.bwise.kr/skku/handle/2021.sw.skku/73608
- DOI
- 10.1016/j.nmd.2010.06.005
- ISSN
- 0960-8966
- 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.
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Collections - Medicine > Department of Medicine > 1. Journal Articles
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