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Case Report: A de novo Variant of CRYGC Gene Associated With Congenital Cataract and Microphthalmia.

ABSTRACT: Background: Congenital cataract is one of the most common causes of blindness in children. A rapid and accurate genetic diagnosis benefit the patients in the pediatric department. The current study aims to identify the genetic defects in a congenital cataract patient without a family history. Case presentation: A congenital cataract patient with microphthalmia and nystagmus was recruited for this study. Trio-based whole-exome sequencing revealed a de novo variant (c.394delG, p.V132Sfs*15) in CRYGC gene. According to the American College of Medical Genetics and Genomics (ACMG) criteria, the variant could be annontated as pathogenic. Conclusion: Our findings provide new knowledge of the variant spectrum of CRYGC gene and are essential for understanding the heterogeneity of cataracts in the Chinese population.

SUBMITTER: Peng Y

PROVIDER: S-EPMC9198712 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature

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Case Report: A de novo Variant of CRYGC Gene Associated With Congenital Cataract and Microphthalmia.

Peng Yu Y Zheng Yu Y Deng Zifeng Z Zhang Shuju S Tan Yilan Y Hu Zhengmao Z Tao Lijuan L Luo Yulin Y

Frontiers in genetics 20220527

Background: Congenital cataract is one of the most common causes of blindness in children. A rapid and accurate genetic diagnosis benefit the patients in the pediatric department. The current study aims to identify the genetic defects in a congenital cataract patient without a family history. Case presentation: A congenital cataract patient with microphthalmia and nystagmus was recruited for this study. Trio-based whole-exome sequencing revealed a de novo variant (c.394delG, ...[more]

PMID: 35719371

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