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学科主题: 临床医学
题名:
Genotype/phenotype analysis in Chinese laminin-alpha 2 deficient congenital muscular dystrophy patients
作者: Xiong, H.1; Tan, D.1; Wang, S.1; Song, S.2; Yang, H.1; Gao, K.1; Liu, A.1; Jiao, H.1; Mao, B.3; Ding, J.1; Chang, X.1; Wang, J.1; Wu, Y.1; Yuan, Y.4; Jiang, Y.1; Zhang, F.5; Wu, H.6; Wu, X.1
关键词: CGH ; clinical manifestations ; DNA sequencing ; LAMA2 ; MLPA
刊名: CLINICAL GENETICS
发表日期: 2015-03-01
DOI: 10.1111/cge.12366
卷: 87, 期:3, 页:233-243
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]: LAMA2 GENE ANALYSIS ; PRENATAL-DIAGNOSIS ; MEROSIN ; PHENOTYPE ; POPULATION ; EXPRESSION ; MUTATIONS
英文摘要:

Laminin-2 deficient congenital muscular dystrophy (CMD) is an autosomal recessive disorder characterized by severe muscular dystrophy, which is typically associated with abnormal white matter. In this study, we assessed 43 CMD patients with typical white matter abnormality and laminin-2 deficiency (complete or partial) diagnosed by immunohistochemistry to determine the clinical and molecular genetic characteristics of laminin-2 deficient CMD. LAMA2 gene mutation analysis was performed by direct sequencing of genomic DNAs. Exonic deletion or duplication was identified by multiplex ligation-dependent probe amplification (MLPA) and verified by high-density oligonucleotide-based CGH microarrays. Gene mutation analysis revealed 86 LAMA2 mutations (100%); 15 known and 37 novel. Among these mutations, 73.9% were nonsense, splice-site or frameshift and 18.8% were deletions of one or more exons. Genetic characterization of affected families will be valuable in prenatal diagnosis of CMD in the Chinese population.

语种: 英语
所属项目编号: 2012CB944602 ; 81271400
项目资助者: National Basic Research Program of China ; National Natural Science Foundation of China
WOS记录号: WOS:000350052000005
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/65708
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.Wuhan Childrens Hosp, Dept Neurol, Wuhan, Peoples R China
2.Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
3.Peking Univ, Dept Med Genet, Sch Basic Med Sci, Beijing 100034, Peoples R China
4.Peking Univ, Hosp 1, Dept Neurol, Beijing 100034, Peoples R China
5.Fudan Univ, Sch Life Sci, Shanghai 200433, Peoples R China
6.Beijing Childrens Hosp, Dept Neurol, Beijing, Peoples R China

Recommended Citation:
Xiong, H.,Tan, D.,Wang, S.,et al. Genotype/phenotype analysis in Chinese laminin-alpha 2 deficient congenital muscular dystrophy patients[J]. CLINICAL GENETICS,2015,87(3):233-243.
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