先天性白内障伴继发性青光眼的CRYGS基因突变1例报告。

IF 1.6 4区 医学 Q3 MEDICINE, RESEARCH & EXPERIMENTAL
American journal of translational research Pub Date : 2025-08-15 eCollection Date: 2025-01-01 DOI:10.62347/ENMU6061
Wan Li, Fei Chen
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引用次数: 0

摘要

先天性白内障是婴幼儿视力受损的主要原因,青光眼是白内障手术后常见的并发症。在此,我们报告一例先天性白内障术后并发继发性青光眼,并初步探讨其遗传病因。进行全面体检,提取患者基因组DNA进行外显子组测序。在CRYGS基因(C . 409t >C: p.Trp137Arg)中发现了一个与常染色体显性多态性白内障相关的杂合变异,其意义尚不确定。家族分离分析显示为母系遗传,遗传给后代的风险为50%。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Case report of a CRYGS gene mutation in a patient with congenital cataracts and secondary glaucoma.

Congenital cataracts are a major cause of visual impairment in infants and young children, with glaucoma being a frequent complication after cataract surgery. Here, we report a case of congenital cataracts accompanied by secondary glaucoma following surgery and we preliminarily investigate the genetic etiology. Comprehensive physical examination was performed, and genomic DNA extracted from the patient's was subjected to exome sequencing. A heterozygous variant of uncertain significance in the CRYGS gene (c.409T>C: p.Trp137Arg), associated with autosomal dominant polymorphic cataract, was identified. Familial segregation analysis indicated maternal inheritance, with a 50% transmission risk to future offspring.

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American journal of translational research
American journal of translational research ONCOLOGY-MEDICINE, RESEARCH & EXPERIMENTAL
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