Pathogenic gene screening in a family with juvenile open-angle glaucoma
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.1 130C＞G(p.Thr377Arg),which showed autosomal dominant inheritance.Other unaffected family members were not found to have the mutation.Conclusion The c.1 130C＞G(p.Thr377Arg)mutation in the MYOC gene may be responsible for the pathogenesis of this JOAG family.
万方数据
维普
