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Founder mutation causes classical Fukuyama congenital muscular dystrophy (FCMD) in Chinese patients
Yang, Haipo1; Kobayashi, Kazuhiro2; Wang, Shuo1; Jiao, Hui1; Xiao, Jiangxi3; Toda, Tatsushi2; Wu, Xiru1; Xiong, Hui1
关键词Fukuyama Congenital Muscular Dystrophy Fktn 3-kb Insertion Haplotype Analysis Founder Mutation
刊名BRAIN & DEVELOPMENT
2015-10-01
DOI10.1016/j.braindev.2015.02.010
37期:9页:880-886
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Clinical Neurology
资助者National Natural Science Foundation of China ; National Basic Research Program of China ; National Natural Science Foundation of China ; National Basic Research Program of China
研究领域[WOS]Neurosciences & Neurology
关键词[WOS]WALKER-WARBURG-SYNDROME ; RETROTRANSPOSAL INSERTION ; DEFECTIVE GLYCOSYLATION ; FUKUTIN ; DYSTROGLYCAN ; GENE ; INVOLVEMENT ; PHENOTYPE ; DISEASE
英文摘要

Purpose: Fukuyama congenital muscular dystrophy (FCMD) is a congenital muscular dystrophy rarely reported outside Japan. Here, we report three patients with Fukuyama congenital muscular dystrophy (FCMD) in China who shared a similar clinical phenotype and 3-kb insertion in the FKTN 3′ untranslated region.

Methods: Immunofluorescence staining was undertaken on muscle biopsies from three patients using alpha dystroglycan antibody (IIH6). Genomic DNA from patients and parents was extracted from peripheral blood leukocytes. Polymerase chain reaction and DNA sequencing were employed to analyze the exons and surrounding intron sequences of the fukutin (FKTIV) gene to detect mutations. Haplotype analysis was also performed on each patient and their parents.

Results: All patients had delayed mental and motor development, febrile convulsions, muscle weakness, and moderate to significant raised levels of serum creatine kinase (7000-11,160 U/L, 25-60 x normal). Brain MRI scans showed micropolygyria and extensive dysplasia in the white matter and brainstem. Electromyography revealed myopathic changes. Muscle immunofluorescence studies demonstrated reduced IIH6 staining. Genetic testing showed compound heterozygous mutations of FKTN. Cases 1 and 2 had a c.139C>T (p.Arg47*) heterozygous mutation. Case 3 had a c.346C>T (p.Gln116*) heterozygous mutation.

Conclusion: All patients had a heterozygous 3-kb insertion in the FKTN 3′ untranslated region. Haplotype analyses suggested that these patients had the same haplotype as Japanese patients. (C) 2015 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

语种英语
所属项目编号81271400 ; 2012CB944602
资助者National Natural Science Foundation of China ; National Basic Research Program of China ; National Natural Science Foundation of China ; National Basic Research Program of China
WOS记录号WOS:000361781400009
引用统计
被引频次:1[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/54792
专题北京大学第一临床医学院_儿科
作者单位1.Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
2.Kobe Univ, Grad Sch Med, Div Neurol Mol Brain Sci, Kobe, Hyogo 6500017, Japan
3.Peking Univ, Hosp 1, Dept Radiol, Beijing 100034, Peoples R China
推荐引用方式
GB/T 7714
Yang, Haipo,Kobayashi, Kazuhiro,Wang, Shuo,et al. Founder mutation causes classical Fukuyama congenital muscular dystrophy (FCMD) in Chinese patients[J]. BRAIN & DEVELOPMENT,2015,37(9):880-886.
APA Yang, Haipo.,Kobayashi, Kazuhiro.,Wang, Shuo.,Jiao, Hui.,Xiao, Jiangxi.,...&Xiong, Hui.(2015).Founder mutation causes classical Fukuyama congenital muscular dystrophy (FCMD) in Chinese patients.BRAIN & DEVELOPMENT,37(9),880-886.
MLA Yang, Haipo,et al."Founder mutation causes classical Fukuyama congenital muscular dystrophy (FCMD) in Chinese patients".BRAIN & DEVELOPMENT 37.9(2015):880-886.
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