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Article

An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group.

Human genetics - 1 Feb 2012

Borck Guntram, Kakar Naseebullah, Hoch Jochen, Friedrich Katrin, Freudenberg Jan, Nürnberg Gudrun, Yilmaz Rüstem, Daud Shakeela, Baloch Dost Muhammad, Nürnberg Peter, Oldenburg Johannes, Ahmad Jamil, Kubisch Christian

Abstract excerpt

We performed homozygosity mapping in a consanguineous Pakistani family segregating autosomal-recessive congenital cataracts and identified linkage to a 3.03 Mb locus on chromosome 6p24 containing the GCNT2 gene. GCNT2 encodes glucosaminyl (N-acetyl) transferase 2, an enzyme responsible for the formation of the blood group I antigen. Rare biallelic GCNT2 mutations have been shown to cause the association of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21761136
DOI: 10.1007/s00439-011-1062-1

Genes

GCNT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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