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:10.3389/fgene.2022.866246

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

Front Genet. 2022 May 27:13:866246. doi: 10.3389/fgene.2022.866246. eCollection 2022.

Authors

Yu Peng¹, Yu Zheng², Zifeng Deng³, Shuju Zhang², Yilan Tan³, Zhengmao Hu⁴, Lijuan Tao³, Yulin Luo³

Affiliations

¹ Department of Ophthalmology & Pediatrics Research Institute of Hunan Province, Hunan Children's Hospital, Changsha, China.
² Pediatrics Research Institute of Hunan Province, Hunan Children's Hospital, Changsha, China.
³ Department of Ophthalmology, Hunan Children's Hospital, Changsha, China.
⁴ Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China.

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.

Keywords: CRYGC; congenital cataract; crystallin; microphthalmia; whole-exome sequencing.

Publication types

Case Reports