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学科主题: 临床医学
题名:
Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy
作者: Zhang, Yan-Zhi1; Zhao, Dan-Hua2; Yang, Hai-Po1; Liu, Ai-Jie1; Chang, Xing-Zhi1; Hong, Dao-Jun2; Bonnemann, Carsten3; Yuan, Yun2; Wu, Xi-Ru1; Xiong, Hui1
关键词: collagen VI ; in-frame ; missense ; triple helical domain ; Ullrich congenital muscular dystrophy
刊名: WORLD JOURNAL OF PEDIATRICS
发表日期: 2014-05-01
DOI: 10.1007/s12519-014-0481-1
卷: 10, 期:2, 页:126-132
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Pediatrics
研究领域[WOS]: Pediatrics
关键词[WOS]: MUSCLE ; DEFICIENCY ; DOMINANT ; DISEASES
英文摘要:

Background: We determined the clinical and molecular genetic characteristics of 8 Chinese patients with Ullrich congenital muscular dystrophy (UCMD).

Methods: Clinical data of probands were collected and muscle biopsies of patients were analyzed. Exons of COL6A1, COL6A2 and COL6A3 were analyzed by direct sequencing. Mutations in COL6A1, COL6A2 and COL6A3 were identified in 8 patients.

Results: Among these mutations, 5 were novel [three in the triple helical domain (THD) and 2 in the second C-terminal (C2) domain]. We also identified five known missense or in-frame deletion mutations in THD and C domains. Immunohistochemical studies on muscle biopsies from patients showed reduced level of collagen VI at the muscle basement membrane and mis-localization of the protein in interstitial and perivascular regions.

Conclusions: The novel mutations we identified underscore the importance of THD and C2 domains in the assembly and function of collagen VI, thereby providing useful information for the genetic counseling of UCMD patients.

语种: 英语
所属项目编号: 7112133 ; 2012CB944602 ; 81271400
项目资助者: Beijing Natural Science Foundation of China ; National Basic Research Program of China (973 Program) ; National Natural Science Foundation of China
WOS记录号: WOS:000335367600005
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/67557
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.Peking Univ, Hosp 1, Dept Neurol, Beijing 100034, Peoples R China
3.NINDS, Neuromuscular & Neurdgenet Disorders Childhood Se, NIH, Bethesda, MD 20892 USA

Recommended Citation:
Zhang, Yan-Zhi,Zhao, Dan-Hua,Yang, Hai-Po,et al. Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy[J]. WORLD JOURNAL OF PEDIATRICS,2014,10(2):126-132.
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