Pathogenic gene screening in a family with juvenile open-angle glaucoma_West China Medical Journal

Authors：

LÜ Zhiqing ¹ , LI Wenman ^1,2 , YAN Naihong ¹ ,  LI Ni ¹

1. Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, P. R. China;
2. Department of Ophthalmology, the Third People’s Hospital of Chengdu, Chengdu, Sichuan 610000, P. R. China;

Corresponding author：

LI Ni, Email: linieye@wchscu.cn

Keywords：

Juvenile open-angle glaucoma; whole-exome sequencing; MYOC gene; Thr377Arg mutation

DOI：

10.7507/1002-0179.202403062

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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.

Citation： LÜ Zhiqing, LI Wenman, YAN Naihong, LI Ni. Pathogenic gene screening in a family with juvenile open-angle glaucoma. West China Medical Journal, 2024, 39(12): 1887-1892. doi: 10.7507/1002-0179.202403062 Copy

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27.	Mataftsi A, Achache F, Héon E, et al. MYOC mutation frequency in primary open-angle glaucoma patients from Western Switzerland. Ophthalmic Genet, 2001, 22(4): 225-231.
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27. Mataftsi A, Achache F, Héon E, et al. MYOC mutation frequency in primary open-angle glaucoma patients from Western Switzerland. Ophthalmic Genet, 2001, 22(4): 225-231.
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West China Medical Journal

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

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