Frontiers in Genetics (May 2022)

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

  • Yu Peng,
  • Yu Zheng,
  • Zifeng Deng,
  • Shuju Zhang,
  • Yilan Tan,
  • Zhengmao Hu,
  • Lijuan Tao,
  • Yulin Luo

DOI
https://doi.org/10.3389/fgene.2022.866246
Journal volume & issue
Vol. 13

Abstract

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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.

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