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  • west china medical publishers
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    find Keyword "Thr377Arg mutation" 1 results
    • 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.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.

      Release date:2024-12-27 02:33 Export PDF Favorites Scan
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  • 松坂南