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Genotype/phenotype analysis in Chinese laminin-alpha 2 deficient congenital muscular dystrophy patients
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
2015-03-01
DOI10.1111/cge.12366
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
WOS记录号WOS:000350052000005
项目编号2012CB944602 ; 81271400
资助机构National Basic Research Program of China ; National Natural Science Foundation of China
引用统计
被引频次:10[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/400002259/65708
专题北京大学第一临床医学院_儿科
北京大学药学院_天然药物与仿生药物国家重点实验室
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
推荐引用方式
GB/T 7714
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.
APA Xiong, H..,Tan, D..,Wang, S..,Song, S..,Yang, H..,...&Wu, X..(2015).Genotype/phenotype analysis in Chinese laminin-alpha 2 deficient congenital muscular dystrophy patients.CLINICAL GENETICS,87(3),233-243.
MLA Xiong, H.,et al."Genotype/phenotype analysis in Chinese laminin-alpha 2 deficient congenital muscular dystrophy patients".CLINICAL GENETICS 87.3(2015):233-243.
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