P295: Case report with biallelic variants in GCNT2 implicates exon 1B in congenital cataracts

Genetics in Medicine Open 2026 Open access

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Authors: Audrey O'Neill, Cindy Bayer, Emily McQuillen, Erica Smith, Meghan Towne, Dallas Reed
DOI: 10.1016/j.gimo.2026.103789
Cited by: 0

Abstract

GCNT2-related congenital cataract (with or without the adult i blood phenotype) is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C). While the transcript that includes exon 1C is thought to be key for the adult i blood phenotype, it is not clear which transcript(s) are clinically relevant for the congenital cataract disease phenotype.

Fields of Study & Subjects

Genomics and Rare Diseases Connexins and lens biology Lysosomal Storage Disorders Research

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103789–103789
Publication date
1 January 2026
Language
EN