候选基因分析确定了印度原发性先天性青光眼家族中CYP1B1和LTBP2的突变。
Candidate Gene Analysis Identifies Mutations in CYP1B1 and LTBP2 in Indian Families with Primary Congenital Glaucoma.
作者信息
Yang Yeming, Zhang Lin, Li Shujin, Zhu Xianjun, Sundaresan Periasamy
机构信息
1 Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China , Chengdu, China .
2 Department of Clinical Laboratory, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital , Chengdu, China .
出版信息
Genet Test Mol Biomarkers. 2017 Apr;21(4):252-258. doi: 10.1089/gtmb.2016.0203. Epub 2017 Feb 27.
BACKGROUND
Primary congenital glaucoma (PCG) is a severe ocular disorder that presents early in life. Cytochrome P4501B1 (CYP1B1) and latent transforming growth factor-beta-binding protein 2 (LTBP2) are the most commonly mutated genes in PCG.
AIM
To investigate the causative genetic mutations in eight Indian families with PCG.
MATERIALS AND METHODS
Whole-exome sequencing was applied to analyze the genomic DNA samples from PCG probands. Sanger sequencing was utilized to confirm the identified mutations.
RESULTS
We identified four homozygous missense mutations (c.1405C>T, p.R469W; c.1397G>T, p.G466V; c.1198C>T, p.P400S; and c.1103G>A, p.R368H) in CYP1B1 and one nonsense mutation (c.2421G>A, p.W807X) in LTBP2 in eight Indian families. Among the five mutations identified, G466V in CYP1B1 and W807X in LTBP2 represent novel mutations.
CONCLUSIONS
Our study expands the mutational spectrum of PCG in the Indian population.
背景
原发性先天性青光眼（PCG）是一种在生命早期出现的严重眼部疾病。细胞色素P4501B1（CYP1B1）和潜在转化生长因子-β结合蛋白2（LTBP2）是PCG中最常发生突变的基因。
目的
研究八个印度PCG家系中的致病基因突变。
材料与方法
应用全外显子组测序分析PCG先证者的基因组DNA样本。采用Sanger测序法确认所鉴定的突变。
结果
我们在八个印度家系中鉴定出CYP1B1基因的四个纯合错义突变（c.1405C>T，p.R469W；c.1397G>T，p.G466V；c.1198C>T，p.P400S；和c.1103G>A，p.R368H）以及LTBP2基因的一个无义突变（c.2421G>A，p.W807X）。在所鉴定的五个突变中，CYP1B1基因的G466V和LTBP2基因的W807X代表新的突变。
结论
我们的研究扩展了印度人群中PCG的突变谱。
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