%0 Case Reports
%T Case Report: A de novo Variant of CRYGC Gene Associated With Congenital Cataract and Microphthalmia.
%A Peng Y
%A Zheng Y
%A Deng Z
%A Zhang S
%A Tan Y
%A Hu Z
%A Tao L
%A Luo Y
%J Front Genet
%V 13
%N 0
%D 2022
%M 35719371
%F 4.772
%R 10.3389/fgene.2022.866246
%X 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.