AccScience Publishing / GPD / Online First / DOI: 10.36922/GPD025280053
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ORIGINAL RESEARCH ARTICLE

Genetic analysis of GJA3 and GJA8 mutations in cataract patients from the Jammu region, North India

Pooja Devi1 ,  Ankush Bala1 ,  Amrit Sudershan2,3 ,  Mohd Younis1,2 ,  Sawarkar Sharma4 ,  Rakesh K. Panjaliya1 ,  Happy Kour5 ,  Parvinder Kumar1,2*
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1 Department of Zoology, University of Jammu, Jammu and Kashmir, India
2 Institute of Human Genetics, University of Jammu, Jammu and Kashmir, India
3 Department of Human Genetics, Sri Pratap College, Cluster University Srinagar, Srinagar, Jammu and Kashmir, India
4 Department of Zoology, Central University of Jammu, Samba, Jammu and Kashmir, India
5 Department of Ophthalmology, Government Medical College, Jammu, Jammu and Kashmir, India
GPD, 025280053 https://doi.org/10.36922/GPD025280053
Received: 10 July 2025 | Revised: 3 August 2025 | Accepted: 13 October 2025 | Published online: 5 February 2026
© 2026 by the Author(s). This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution 4.0 International License ( https://creativecommons.org/licenses/by/4.0/ )
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Abstract

Cataracts are a clinically and genetically heterogeneous cause of visual impairment and have multifactorial causes, in which genetic factors play a significant role. Numerous studies suggest that mutations in genes involved in maintaining lens transparency contribute to the development of cataracts. Therefore, the present study aimed to investigate the spectrum of genetic variations and mutations in the GJA3 and GJA8 genes in cataract patients from the Jammu region of North India. A total of 100 individuals were enrolled, consisting of 50 cataract patients (senile [n = 35 and congenital cataracts (CCs) [n = 15), diagnosed by an ophthalmologist, and 50 healthy controls. DNA was extracted, followed by amplification of the targeted regions of the GJA8 and GJA3 genes using polymerase chain reaction. The amplified DNA was then sequenced using the Sanger sequencing method. A novel heterozygous C>T transition at nucleotide position 759 in exon 2 of the GJA8 gene (connexin 50) was identified in four CC patients. This silent variation caused a leucine-to-leucine substitution at amino acid position 268. Importantly, this mutation was not found in any of the 50 healthy controls or the other 46 cataract patients. No mutations were detected in the GJA3 gene. The study concludes that this GJA8 gene polymorphism may be a genetic risk factor for the development of CCs in the Jammu region of North India.

Graphical abstract
Keywords
Congenital cataracts
GJA8
GJA3
Genetic mutations
Jammu
North India
Funding
This work was supported by the Council of Scientific and Industrial Research– University Grants Commission under the Junior Research Fellowship and Senior Research Fellowships (project number: F.No16-9[JUNE 2018]- 2019[NET/CSIR]).
Conflict of interest
The authors declare that they have no competing interests.
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