Pleiotropic effect of a novel mutation in GCNT2 causing congenital cataract and a rare adult i blood group phenotype

Sek-Shir Cheong,Ravinder Chana,Anthony T Moore,Sarah Hull,Nicole Thornton,Alison J Hardcastle,Benjamin Jones,Vincent Plagnol

doi:10.1038/hgv.2017.4

Abstract

Mutations in GCNT2 have been associated with the rare adult i blood group phenotype with or without congenital cataract. We report a novel homozygous frameshift mutation c.1163_1166delATCA, p.(Asn388Argfs*20) as the cause of congenital cataract in two affected siblings. Blood group typing confirmed that both affected males have the rare adult i phenotype, supporting the hypothesis that the partial association of I/i phenotype and congenital cataract is due to the differential expression of GCNT2 isoforms.

Highlights

Mutations in GCNT2 have been associated with the rare adult i blood group phenotype with or without congenital cataract
We report a novel homozygous frameshift mutation c.1163_1166delATCA, p.(Asn388Argfs*20) as the cause of congenital cataract in two affected siblings
Blood group typing confirmed that both affected males have the rare adult i phenotype, supporting the hypothesis that the partial association of I/i phenotype and congenital cataract is due to the differential expression of GCNT2 isoforms

Summary

DATA REPORT

Sek-Shir Cheong[1], Sarah Hull[2], Benjamin Jones[3], Ravinder Chana[2], Nicole Thornton[3], Vincent Plagnol[4], Anthony T Moore[1,2,5] and Alison J Hardcastle[1]. Mutations in GCNT2 have been associated with the rare adult i blood group phenotype with or without congenital cataract. Blood group typing confirmed that both affected males have the rare adult i phenotype, supporting the hypothesis that the partial association of I/i phenotype and congenital cataract is due to the differential expression of GCNT2 isoforms. At 10 months of age, cataract surgery was performed with lens aspiration, which left him aphakic. Their mother (I:2) had subtle lamellar lens opacities at the age of 61 years. Given her age and prevalence of cataracts in the general population at that age, these findings could be age-related. Mutations in GCNT2 causing CC and rare adult i blood group phenotype S-S Cheong et al

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Official journal of the Japan Society of Human Genetics

Findings

AUTHOR CONTRIBUTIONS