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

Hao Peng; Yuhui Zhang; Zhigao Long; Ding Zhao; Zhenxin Guo; Jinjie Xue; Zhiguo Xie; Zhimin Xiong; Xiaojuan Xu; Wei Su; Bing Wang; Kun Xia; Zhengmao Hu

doi:10.1016/j.gene.2012.04.023

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

Gene. 2012 Jul 10;502(2):168-71. doi: 10.1016/j.gene.2012.04.023. Epub 2012 Apr 29.

Authors

Hao Peng¹, Yuhui Zhang, Zhigao Long, Ding Zhao, Zhenxin Guo, Jinjie Xue, Zhiguo Xie, Zhimin Xiong, Xiaojuan Xu, Wei Su, Bing Wang, Kun Xia, Zhengmao Hu

Affiliation

¹ School of Biological Science and Technology, Central South University, Changsha, Hunan, China.

PMID: 22565191
DOI: 10.1016/j.gene.2012.04.023

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Asian People
Child, Preschool
Collagen Type I / genetics*
Collagen Type I, alpha 1 Chain
Female
Humans
Male
Mutation*
Osteogenesis Imperfecta / genetics*
Pedigree
RNA Splicing*
Young Adult

Substances

Collagen Type I
Collagen Type I, alpha 1 Chain