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

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