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学科主题: 临床医学
题名:
Fukutin Gene Retrotransposal Insertion in a Non-Japanese Fukuyama Congenital Muscular Dystrophy (FCMD) Patient
作者: Xiong, Hui1; Wang, Shuo1; Kobayashi, Kazuhiro2; Jiang, Yuwu1; Wang, Jingmin1; Chang, Xingzhi1; Yuan, Yun3; Liu, Jieyu1; Toda, Tatsushi2; Fukuyama, Yukio4; Wu, Xiru1
关键词: 3-kb retrotransposal insertion ; FCMD ; Chinese
刊名: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
发表日期: 2009-11-01
DOI: 10.1002/ajmg.a.33057
卷: 149A, 期:11, 页:2403-2408
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Genetics & Heredity
研究领域[WOS]: Genetics & Heredity
关键词[WOS]: PHENOTYPE ; MUTATION ; GLYCOSYLATION ; DYSTROGLYCAN ; GENOTYPE ; POMGNT1
英文摘要:

Fukuyama-type congenital muscular dystrophy (FCMD) is an autosomal recessive disorder, characterized by severe muscular dystrophy associated with brain malformation. FCMD is the second most common form of muscular dystrophy and one of the most common autosomal recessive diseases among the Japanese population; however, no typical FCMD cases have been reported in any other population. In this study, we report on the first identification of a Chinese FCMD patient; our findings are supported by clinical, histological, and magnetic resonance imaging (MRI) evidence, as well as fukutin gene mutational analyses. The patient presented with neonatal hypotonia, seizures, and delayed motor and speech development. Additional testing revealed cerebral and cerebellar gyrus abnormalities with white matter signal intensity changes, elevated serum creatine kinase (CK) levels, and dystrophic skeletal muscle with beta-dystroglycan hypoglycosylation, and normal alpha-dystroglycan and merosin expression. Genetic analysis of the fukutin gene showed one copy with a Japanese founder 3-kilobase (kb) retrotransposal insertion in the 3′-non-coding region and the other copy with a known c.139C>T mutation. This is the first FCMD case reported in the Chinese population and the first case in which the 3-kb insertion has been found outside of the Japanese population. This report emphasizes the importance of considering the fukutin founder mutation for diagnostic purposes outside of Japan. (C) 2009 Wiley-Liss, Inc.

语种: 英语
所属项目编号: 30600683
项目资助者: National Natural Science Foundation of China
WOS记录号: WOS:000271587600008
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/67945
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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作者单位: 1.Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
2.Osaka Univ, Grad Sch Med, Dept Med Genet, Div Clin Genet, Osaka, Japan
3.Peking Univ, Hosp 1, Dept Neurol, Beijing 100034, Peoples R China
4.Child Neurol Inst, Tokyo, Japan

Recommended Citation:
Xiong, Hui,Wang, Shuo,Kobayashi, Kazuhiro,et al. Fukutin Gene Retrotransposal Insertion in a Non-Japanese Fukuyama Congenital Muscular Dystrophy (FCMD) Patient[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A,2009,149A(11):2403-2408.
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