青少年型开角型青光眼家系致病基因的筛查研究  

Pathogenic gene screening in a family with juvenile open-angle glaucoma

作　　者：吕智清 李汶蔓 闫乃红[1] 李妮[1] LÜ Zhiqing;LI Wenman;YAN Naihong;LI Ni(Department of Ophthalmology,West China Hospital,Sichuan University,Chengdu,Sichuan 610041,P.R.China;Department of Ophthalmology,the Third People’s Hospital of Chengdu,Chengdu,Sichuan 610000,P.R.China)

机构地区：[1]四川大学华西医院眼科,成都610041 [2]成都市第三人民医院眼科,成都610000

出　　处：《华西医学》2024年第12期1887-1892,共6页West China Medical Journal

摘　　要：目的对一个青少年型开角型青光眼(juvenile open-angle glaucoma,JOAG)家系进行基因突变位点的筛查和临床表型分析,识别与JOAG相关的基因突变。方法2021年1月对中国四川省一个JOAG家系成员行全面的眼科检查,应用全外显子测序技术对先证者进行致病基因筛查,对发现的变异用Sanger测序在家系成员中进行致病基因验证,并进行长期随访。结果该家系3代共8人,其中JOAG患者3例。所有患者均携带MYOC基因c.1130C>G(p.Thr377Arg)的错义突变,表现为常染色体显性遗传。其他未患病家系成员未发现该突变。结论该JOAG家系发病可能由MYOC基因c.1130C>G(p.Thr377Arg)突变引起。Objective To identify genes associated with juvenile open-angle glaucoma(JOAG)by screening for gene mutation loci and clinical phenotype analysis in a JOAG family.Methods In January 2021,an ophthalmic examination was performed on members of a family with JOAG.Whole-exome sequencing was done on the proband to look for pathogenic genes.Family members were validated using Sanger sequencing,and a long-term follow-up was conducted.Results Three generations of the family comprised eight individuals,including three patients with JOAG.All patients carried a missense mutation in the MYOC gene c.1130C>G(p.Thr377Arg),which showed autosomal dominant inheritance.Other unaffected family members were not found to have the mutation.Conclusion The c.1130C>G(p.Thr377Arg)mutation in the MYOC gene may be responsible for the pathogenesis of this JOAG family.

关 键 词：青少年型开角型青光眼 全外显子测序 MYOC基因 Thr377Arg突变 

分 类 号：R775.2[医药卫生—眼科]