A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family
A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family
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COL1A1基因的新剪接突变导致中国家族I型成骨不全症
DOI：
10.1016/j.gene.2012.04.023
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发表时间：
2012-07-10
期刊：
影响因子：
3.5
通讯作者：
Hu, Zhengmao
中科院分区：
文献类型：
--
作者：
Peng, Hao;Zhang, Yuhui;Hu, Zhengmao
成骨不全（OI）是一种遗传性结缔组织疾病，以骨脆性为主要表现，伴有身材矮小、牙本质发育不全、韧带和皮肤松弛、巩膜变蓝和听力损失。OI的主要形式是由I型前胶原基因COL 1A 1/A2突变引起的。我们在一个中国家系中发现了一个新的COL 1A 1基因剪接突变c.3207+1G>A（GenBank ID：JQ 236861），该突变导致I型OI。RNA剪接分析证明，该突变在c.3200处产生了一个新的剪接位点，然后导致移码。这一结果进一步丰富了Ⅰ型前胶原基因的突变谱。(C)2012 Elsevier B. V.保留所有权利。
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.