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Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea

Cited 14 time in Web of Science Cited 19 time in Scopus
Issue Date
2010-08
Publisher
PERGAMON-ELSEVIER SCIENCE LTD
Citation
NEUROMUSCULAR DISORDERS; Vol.20 8; 524-530
Keywords
Muscular dystrophyCongenitalDystroglycanMutation
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
URI
https://hdl.handle.net/10371/76845
DOI
https://doi.org/10.1016/j.nmd.2010.06.005
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College of Medicine/School of Medicine (의과대학/대학원)Dept. of Biochemistry & Molecular Biology (생화학교실)Journal Papers (저널논문_생화학교실)
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