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

• DOI: 10.1038/hgv.2017.4
• Publication Date: 2017-02-16T03:28:23Z
• Authors: Sek-Shir Cheong; Sarah Hull; Benjamin Jones; Ravinder Chana; Nicole Thornton; Vincent Plagnol; Anthony T Moore; Alison J Hardcastle
• Keywords: Pediatric; 0303 health sciences; 610; Biological Sciences; 03 medical and health sciences; 616; Mutation; Genetics; Next-generation sequencing; Data Report; Congenital Structural Anomalies; 2.1 Biological and endogenous factors; Aetiology

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