A novel base substitution mutation of the CRYBA2 gene is associated with autosomal dominant congenital cataract

•We found a new mutation of CRYBA2 gene associated with congenital cataract.•This gene mutation can lead to autosomal dominant congenital cataract.•This mutation could decrease stability of beta A2-crystallin. Congenital cataract is one of the leading causes of vision loss in children, and a large p...

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Bibliographic Details
Published in:Gene 2024-11, Vol.927, p.148726, Article 148726
Main Authors: Liu, Yuming, Ye, Zi, Yu, HanYang, Zhang, Yan, Li, Zhaohui
Format: Article
Language:English
Subjects:
Autosomal dominant
Congenital cataract
CRYBA2
Gene mutation
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Summary:•We found a new mutation of CRYBA2 gene associated with congenital cataract.•This gene mutation can lead to autosomal dominant congenital cataract.•This mutation could decrease stability of beta A2-crystallin. Congenital cataract is one of the leading causes of vision loss in children, and a large proportion of cases are related to genetics. In a Chinese family, we reported a new missense mutation in CRYBA2 (c.223T>C: p.Tyr75His), which can cause autosomal dominant congenital bilateral cataract. We collected blood samples from family members (mother and two sons) and extracted DNA. Through whole-exome sequencing, we discovered a novel unreported mutation. According to relevant ACMG guidelines, this mutation was determined to be a variant of unknown clinical significance. This article further expands the site information on the CRYBA2 mutations.
ISSN:0378-1119
1879-0038
1879-0038
DOI:10.1016/j.gene.2024.148726