CASE REPORT article
Front. Med.
Sec. Ophthalmology
Volume 12 - 2025 | doi: 10.3389/fmed.2025.1624834
This article is part of the Research TopicNew Concepts, Advances, and Future Trends in Clinical Research on Eye DiseasesView all 48 articles
A family of congenital cataract caused by a novel mutation in the CRYGC gene c.52G>A
Provisionally accepted
- 1Bengbu Medical College, Bengbu, China
- 2Graduate School, Bengbu Medical University, Bengbu, China
Select one of your emails
You have multiple emails registered with Frontiers:
Notify me on publication
Please enter your email address:
If you already have an account, please login
You don't have a Frontiers account ? You can register here
Background: Congenital cataract refers to lens opacity present at birth or progressively developing in the neonatal period, caused by inherited genetic abnormalities or developmental disorders. The etiology of congenital cataract is multifactorial, and its exact pathogenesis remains incompletely understood. Generally, it can be broadly categorized into genetic factors and non-genetic factors (including environmental influences, intrauterine infections or complications during delivery).This case report presents a hereditary congenital cataract characterized by classical clinical manifestations, high penetrance, and a novel pathogenic gene mutation site that has not been previously documented in medical literature. We herein report this (c.52G>A, p.Glu18Lys) as the pathogenic cause of congenital cataracts in this family.Our findings expand the mutational spectrum of the CRYGC gene associated with congenital cataracts and provide enhanced insights into the molecular basis of this condition.
Keywords: Congenital cataracts, CRYGC gene, whole exome sequencing, missense mutations, genetic disease
Received: 08 May 2025; Accepted: 25 Jun 2025.
Copyright: © 2025 Shuying. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Ma Shuying, Bengbu Medical College, Bengbu, China
Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.