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学科主题临床医学
Genetic and clinical findings in a Chinese cohort of patients with collagen VI-related myopathies
Fan, Y.1; Liu, A.1; Wei, C.1; Yang, H.1; Chang, X.1; Wang, S.1; Yuan, Y.2; Bonnemann, C.3; Wu, Q.4; Wu, X.1; Xiong, H.1
通讯作者Xiong, H.(1)
关键词Bethlem myopathy COL6A1 COL6A2 COL6A3 collagen VI mosaicism Ullrich congenital muscular dystrophy
刊名CLINICAL GENETICS
2018-06-01
DOI10.1111/cge.13230
93期:6页:1159-1171
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]CONGENITAL MUSCULAR-DYSTROPHY ; BETHLEM MYOPATHY ; NATURAL-HISTORY ; MUTATIONS ; MOSAICISM ; DISEASE ; MUSCLE ; INHERITANCE ; SEVERITY ; COMMON
英文摘要

Collagen VI-related myopathy, caused by pathogenic variants in the genes encoding collagen VI, represents a clinical continuum from Ullrich congenital muscular dystrophy (UCMD) to Bethlem myopathy (BM). Clinical data of 60 probands and their family members were collected and muscle biopsies of 26 patients were analyzed. COL6A1, COL6A2 and COL6A3 exons were analyzed by direct sequencing or next generation sequencing (NGS). Sixty patients were characterized by delayed motor milestones, muscle weakness, skin and joint changes with 40 UCMD and 20 BM. Muscle with biopsies revealed dystrophic changes and showed completely deficiency of collagen VI or sarcolemma specific collagen VI deficiency. We identified 62 different pathogenic variants in these 60 patients, with 34 were first reported while 28 were previously known; 72 allelic pathogenic variants in COL6A1 (25/72, 34.7%), COL6A2 (33/72, 45.8%) and COL6A3 (14/72, 19.4%). We also found somatic mosaic variant in the parent of 1 proband by personal genome machine amplicon deep sequencing for mosaicism. Here we provide clinical, histological and genetic evidence of collagen VI-related myopathy in 60 Chinese patients. NGS is a valuable approach for diagnosis and accurate diagnosis provides useful information for genetic counseling of related families.

语种英语
WOS记录号WOS:000431979100005
通讯作者邮箱xh_bjbj@163.com
第一作者单位Peking Univ, Hosp 1, Dept Pediat, Beijing, Peoples R China
通讯作者单位Peking Univ, Hosp 1, Dept Pediat, Beijing, Peoples R China
ISSN0009-9163
引用统计
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/140841
专题北京大学第一临床医学院_儿科
北京大学护理学院_护理学院
北京大学临床肿瘤学院_内镜中心
作者单位1.Peking Univ, Hosp 1, Dept Pediat, Beijing, Peoples R China;
2.Peking Univ, Hosp 1, Dept Neurol, Beijing, Peoples R China;
3.NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bethesda, MD 20892 USA;
4.Peking Univ, Sch Life Sci, Human Genet Resources Core Facil, Beijing, Peoples R China
推荐引用方式
GB/T 7714
Fan, Y.,Liu, A.,Wei, C.,et al. Genetic and clinical findings in a Chinese cohort of patients with collagen VI-related myopathies[J]. CLINICAL GENETICS,2018,93(6):1159-1171.
APA Fan, Y..,Liu, A..,Wei, C..,Yang, H..,Chang, X..,...&Xiong, H..(2018).Genetic and clinical findings in a Chinese cohort of patients with collagen VI-related myopathies.CLINICAL GENETICS,93(6),1159-1171.
MLA Fan, Y.,et al."Genetic and clinical findings in a Chinese cohort of patients with collagen VI-related myopathies".CLINICAL GENETICS 93.6(2018):1159-1171.
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