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

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.

SUBMITTER: Cheong SS

PROVIDER: S-EPMC5311056 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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

Cheong Sek-Shir SS Hull Sarah S Jones Benjamin B Chana Ravinder R Thornton Nicole N Plagnol Vincent V Moore Anthony T AT Hardcastle Alison J AJ

Human genome variation 20170216

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 o ...[more]

PMID: 28224043

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