Pleiotropic effect of a novel mutation in GCNT2 causing congenital cataract and a rare adult i blood group phenotype.
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ABSTRACT:
SUBMITTER: Cheong SS
PROVIDER: S-EPMC5311056 | biostudies-literature | 2017
REPOSITORIES: biostudies-literature
Publications
Pleiotropic effect of a novel mutation in <i>GCNT2</i> 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 <i>GCNT2</i> 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]
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