| Title | Identification and Functional Characterization of a Novel Nonsense Variant in ARR3 in a Southern Chinese Family With High Myopia |
| Authors | Yuan, Dejian Yan, Tizhen Luo, Shiqiang Huang, Jun Tan, Jianqiang Zhang, Jianping Zhang, Victor Wei Lan, Yueyuan Hu, Taobo Guo, Jing Huang, Mingwei Zeng, Dingyuan |
| Affiliation | Liuzhou Municipal Matern & Child Hlthcare Hosp, Dept Med Genet, Liuzhou, Peoples R China Liuzhou Municipal Matern & Child Hlthcare Hosp, Liuzhou Key Lab Birth Defects Prevent & Control, Liuzhou, Peoples R China Liuzhou Municipal Matern & Child Hlthcare Hosp, Dept Ophthalmol, Liuzhou, Peoples R China AmCare Genom Lab, Guangzhou, Peoples R China Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Peking Univ, Ctr Breast Dis, Peoples Hosp, Beijing, Peoples R China Sun Yat Sen Univ, Affiliated Hosp 1, Reprod Med Ctr, Guangzhou, Peoples R China Aegicare Sheznzhen Technol Co Ltd, Shenzhen, Peoples R China Liuzhou Municipal Matern & Child Hlthcare Hosp, Dept Gynecol, Liuzhou, Peoples R China |
| Keywords | VISUAL ARRESTIN GENETICS ANTIGEN BINDING |
| Issue Date | 13-Dec-2021 |
| Publisher | FRONTIERS IN GENETICS |
| Abstract | ARR3 has been associated with X-linked, female-limited, high myopia. However, using exome sequencing (ES), we identified the first high myopia case with hemizygous ARR3-related mutation in a male patient in a Southern Chinese family. This novel truncated mutation (ARR3: c.569C>G, p.S190*) co-segregated with the disease phenotype in affected family members and demonstrated that high myopia caused by ARR3 is not X-linked, female-limited, where a complicated X-linked inheritance pattern may exist. Thus, our case expanded the variant spectrum in ARR3 and provided additional information for genetic counseling, prenatal testing, and diagnosis. Moreover, we characterized the nonsense-mediated decay of the ARR3 mutant mRNA and discussed the possible underlying pathogenic mechanisms. |
| URI | http://hdl.handle.net/20.500.11897/634332 |
| DOI | 10.3389/fgene.2021.765503 |
| Indexed | SCI(E) |
| Appears in Collections: | 人民医院 |
