Background: The genotype characteristics and their associated clinical phenotypes in patients with aniridia were analyzed to explore pathogenic variants using whole-exome sequencing. Methods: One patient with aniridia was enrolled at the Beijing Tongren Hospital. Comprehensive ophthalmic and general examinations were performed on the patient. DNA was extracted from the patient, and whole-exome sequencing was performed to identify the causative variant. The pathogenicity of the variant was predicted using in silico analysis and evaluated according to American College of Medical Genetics and Genomics guidelines. Relationships between genetic variants and clinical features were analyzed. Results: In addition to the classical aniridia phenotype showing complete iris aplasia, foveal hypoplasia, and ectopic lentis, the patient also exhibited spontaneous reattachment rhegmatogenous retinal detachment (SRRRD). Whole-exome sequencing identified a novel heterozygous variant, exon8:c.640_646del:p.R214Pfs*28. Conclusions: The present study broadens the range of genetic variants described in aniridia and presents an aniridia patient with SRRRD.
基金：
Supported by National Natural Science Foundation of China (82101146 and 82060183); The Beijing Nova Program (Z211100002121052); Leading talents of innovative projects in Beijing Economic and Technological Development Zone; The Priming Scientific Research Foundation for the Junior Research in Beijing Tongren Hospital Capital Medical University (2017-YJJ-ZZL-009 and 2018-YJJ-ZZL-046); Beijing Tongren Hospital Top Talent Training Program; The key research and development project of Ningxia Hui Autonomous Region (2020BEG03047); The training project of the scientific innovation commanding talented person in Ningxia Hui Autonomous Region (KJT2020013).
第一作者机构：[1]Capital Med Univ, Beijing Tongren Hosp, Beijing Tongren Eye Ctr, Beijing Key Lab Intraocular Tumor Diag & Treatment, 1 Dong Jiao Min Xiang, Beijing 100730, Peoples R China
通讯作者：
推荐引用方式(GB/T 7714)：
Wang Qian,Wei Wen Bin,Shi Xiang Yu,et al.A novel PAX6 variant as the cause of aniridia in a Chinese patient with SRRRD[J].BMC MEDICAL GENOMICS.2023,16(1):doi:10.1186/s12920-023-01620-w.
APA：
Wang, Qian,Wei, Wen Bin,Shi, Xiang Yu&Rong, Wei Ning.(2023).A novel PAX6 variant as the cause of aniridia in a Chinese patient with SRRRD.BMC MEDICAL GENOMICS,16,(1)
MLA：
Wang, Qian,et al."A novel PAX6 variant as the cause of aniridia in a Chinese patient with SRRRD".BMC MEDICAL GENOMICS 16..1(2023)
