A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): Association with autosomal recessive congenital cataracts

Eran Pras, Judith Raz, Vered Yahalom, Moshe Frydman, Hanna J. Garzozi, Elon Pras, J. Fielding Hejtmancik

Research output: Contribution to journalArticlepeer-review

Abstract

PURPOSE. To identify the genetic defect associated with autosomal recessive congenital cataract in four Arab families from Israel. METHODS. Genotyping was performed using microsatellite markers spaced at approximately 10 cM intervals. Two-point lod scores were calculated using MLINK of the LINKAGE program package. Mutation analysis of the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2) gene was performed by direct sequencing of PCR-amplified exons. RESULTS. The cataract locus was mapped to a 13.0-cM interval between D6S470 and D6S289 on Chr. 6p24. A maximum two-point lod score of 8.75 at θ = 0.019 was obtained with marker D6S470. Sequencing exons of the GCNT2 gene, mutations of which have been associated with cataracts and the i blood group phenotype, revealed in these families a homozygous G→A substitution in base 58 of exon-2, resulting in the formation of premature stop codons W328X, W326X, and W328X, of the GCNT2A, -B, and -C isoforms, respectively. Subsequent blood typing of affected family members confirmed the possession of the rare adult i blood group phenotype. CONCLUSIONS. A nonsense mutation in the GCNT2 gene isoforms is associated with autosomal recessive congenital cataract in four distantly related Arab families from Israel. These findings provide further insight into the dual role of the I-branching GCNT2 gene in the lens and in reticulocytes.

Original languageEnglish
Pages (from-to)1940-1945
Number of pages6
JournalInvestigative Ophthalmology and Visual Science
Volume45
Issue number6
DOIs
StatePublished - Jun 2004
Externally publishedYes

Fingerprint

Dive into the research topics of 'A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): Association with autosomal recessive congenital cataracts'. Together they form a unique fingerprint.

Cite this