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Article

Abnormal Splicing in the Final Intron of PRX Results in Dominant Congenital Cataract Without Neurological Phenotype.

Investigative ophthalmology & visual science - 3 Nov 2025

Reis Linda M, Bellingham James, Motta Fabiana Louise, Jurkute Neringa, Raskin Salmo, Ramos Fabiana, Mahroo Omar A, Moosajee Mariya, Arno Gavin, Semina Elena V

Abstract excerpt

Purpose: Disrupted lens development can result in congenital cataract. Despite identifying over 50 genes linked to non-syndromic pediatric cataract, a causative mutation is found in only about 50% of affected families. Methods: Exome and/or genome sequencing was undertaken in families with unexplained congenital cataract. Results: Sequencing revealed heterozygous variants affecting splicing of the final intron of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41230902
DOI: 10.1167/iovs.66.14.28
PMCID: PMC12617670

Genes

PRX

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