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

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

JOURNAL=Frontiers in Genetics

VOLUME=13

YEAR=2022

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.866246

DOI=10.3389/fgene.2022.866246

ISSN=1664-8021

ABSTRACT=<p><bold>Background:</bold> 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.</p><p><bold>Case presentation:</bold> A congenital cataract patient with microphthalmia and nystagmus was recruited for this study. Trio-based whole-exome sequencing revealed a <italic>de novo</italic> variant (c.394delG, p.V132Sfs*15) in <italic>CRYGC</italic> gene. According to the American College of Medical Genetics and Genomics (ACMG) criteria, the variant could be annontated as pathogenic.</p><p><bold>Conclusion:</bold> Our findings provide new knowledge of the variant spectrum of <italic>CRYGC</italic> gene and are essential for understanding the heterogeneity of cataracts in the Chinese population.</p>