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Missense mutations in LAMA2 causing a new phenotype of mild cognitive impairment proximal myopathy, seizure, and severe leukoencephalopathy: A case report and protein analysis 期刊论文

编号：

19c70b4c-ee8e-449b-b1aa-d901a98dd03b
作者：

Ding, Man^[1];Wang, Xi^[1];Zeng, Yanping^[1];Lu, Zuneng^[1];Cai, Shuang(蔡爽)^[2]Gao, Mingshi(高名士)^[3]Zhu, Wenhua(朱雯华)^[2]Luo, Sushan(罗苏珊)^[2]Zhao, Chongbo(赵重波)^[2]Xiao, Zheman^[1];
语种：

英文
期刊：

CLINICAL NEUROPATHOLOGY ISSN：0722-5091 2019 年 38 卷 3 期 (100 - 108) ; MAY-JUN
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关键词：

congenital muscular dystrophy LAMA2 la minin-alpha 2-deficiency MDC1A
摘要：

Congenital muscular dystrophy with laminin-alpha 2 deficiency, also known as MDC1A, displays an extensive pheno-typic and genetic heterogeneity. The combination of clinical, biochemical, and genetic findings must be considered to obtain the precise diagnosis and provide appropriate genetic counseling. Here we report one individual from a family presenting with clinical features including seizure attack, slight weakness of proximal leg muscles, and mild cognitive impairment with increased small angular fibers, decreased expression of alpha-DG and beta-DG, nominal expression of laminin-alpha 2, and severe white matter changes. Targeted next-generation sequencing (NGS) revealed two homozygous missense mutations. c.2881G>A (p. A la961Thr) and c.4406G>A (p.Cys1469Tyr), in LAMA2 in the affected member of the family. Together, these results demonstrate a role for c.2881G>A and c.4406G>A mutations in LAMA2 and show that these two mutations, especially c.4406G>A, may cause mild cognitive impairment, slight motor retardation, seizures, and severe leukoencephalopathy. which extends the clinical spectrum associated with LAMA2 mutations.
推荐引用方式
GB/T 7714：

Ding Man,Wang Xi,Zeng Yanping, et al. Missense mutations in LAMA2 causing a new phenotype of mild cognitive impairment proximal myopathy, seizure, and severe leukoencephalopathy: A case report and protein analysis [J].CLINICAL NEUROPATHOLOGY,2019,38(3):100-108.
APA：

Ding Man,Wang Xi,Zeng Yanping,Lu Zuneng,&Xiao Zheman.(2019).Missense mutations in LAMA2 causing a new phenotype of mild cognitive impairment proximal myopathy, seizure, and severe leukoencephalopathy: A case report and protein analysis .CLINICAL NEUROPATHOLOGY,38(3):100-108.
MLA：

Ding Man, et al. "Missense mutations in LAMA2 causing a new phenotype of mild cognitive impairment proximal myopathy, seizure, and severe leukoencephalopathy: A case report and protein analysis" .CLINICAL NEUROPATHOLOGY 38,3(2019):100-108.
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