Author:
Wang Qian,Wei Wen Bin,Shi Xiang Yu,Rong Wei Ning
Abstract
Abstract
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.
Funder
National Natural Science Foundation of China
The Beijing Nova Program
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
Beijing Tongren Hospital Top Talent Training Program
The key research and development project of Ningxia Hui Autonomous Region
The training project of the scientific innovation commanding talented person in Ningxia Hui Autonomous Region
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
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