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Pedigree analysis of a mutation in COL1A2 gene in a Chinese family with osteogenesis imperfecta type Ⅲ
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- Author:
- No author available
- Journal Title:
- Chinese Journal of Stomatology
- Issue:
- 1
- DOI:
- 10.3760/cma.j.issn.1002-0098.2020.01.009
- Key Word:
- No keyword available
Abstract： 采用二代测序技术对1例以牙本质发育不全为主要临床表现的Ⅲ型成骨不全患者及其父母进行致病基因鉴定,并对临床和遗传资料进行分析.测序结果显示,患者Ⅲ型成骨不全相关基因COL1A2存在错义突变:c.1171G＞A;p.Gly391Ser,家系鉴定结果显示该突变来自患者父亲.COL1A2基因突变(c.1171G＞A;p.Gly391Ser)可能是以牙本质发育不全为主要临床表现的Ⅲ型成骨不全的致病因素之一.
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