A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family

被引：11

作者：

Peng, Hao ^{[1
,2
]}

Zhang, Yuhui ^{[2
]}

Long, Zhigao ^{[2
]}

Zhao, Ding ^{[3
]}

Guo, Zhenxin ^{[3
]}

Xue, Jinjie ^{[2
]}

Xie, Zhiguo ^{[2
]}

Xiong, Zhimin ^{[1
,2
]}

Xu, Xiaojuan ^{[2
]}

Su, Wei ^{[2
]}

Wang, Bing ^{[2
,4
]}

Xia, Kun ^{[1
,2
]}

Hu, Zhengmao ^{[1
,2
]}

机构：

[1] Cent S Univ, Sch Biol Sci & Technol, Changsha, Hunan, Peoples R China

[2] Cent S Univ, State Key Lab Med Genet, Changsha, Hunan, Peoples R China

[3] Zhengzhou Childrens Hosp, Zhengzhou, Herts, Peoples R China

[4] Cent S Univ, Xiangya Hosp 2, Dept Orthopaed, Changsha, Hunan, Peoples R China

来源：

GENE | 2012年 / 502卷 / 02期

基金：

中国国家自然科学基金;

关键词：

Osteogenesis imperfect; COL1A1; Splicing mutation; PHENOTYPE; GENOTYPE;

D O I：

10.1016/j.gene.2012.04.023

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Osteogenesis imperfect (OI) is a heritable connective tissue disorder with bone fragility as a cardinal manifestation, accompanied by short stature, dentinogenesis imperfecta, hyperlaxity of ligaments and skin, blue sclerae and hearing loss. Dominant form of OI is caused by mutations in the type I procollagen genes, COL1A1/A2. Here we identified a novel splicing mutation c.3207+1G>A (GenBank ID: JQ236861) in the COL1A1 gene that caused type I OI in a Chinese family. RNA splicing analysis proved that this mutation created a new splicing site at c.3200, and then led to frameshift. This result further enriched the mutation spectrum of type I procollagen genes. (C) 2012 Elsevier B.V. All rights reserved.

引用

页码：168 / 171

页数：4

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