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Article

Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts.

American journal of medical genetics. Part A - 1 Jul 2026

O'Neill Audrey, Bayer Cindy, McQuillen Emily, Smith Erica D, Towne Meghan, Reed Dallas

Abstract excerpt

GCNT2-related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and 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...

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Identifiers

PMID: 41813616
DOI: 10.1002/ajmg.a.70123

Genes

GCNT2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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