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

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

doi:10.1038/hgv.2017.4

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

Hum Genome Var. 2017 Feb 16:4:17004. doi: 10.1038/hgv.2017.4. eCollection 2017.

Authors

Sek-Shir Cheong¹, Sarah Hull², Benjamin Jones³, Ravinder Chana², Nicole Thornton³, Vincent Plagnol⁴, Anthony T Moore⁵, Alison J Hardcastle¹

Affiliations

¹ UCL Institute of Ophthalmology , London, UK.
² Moorfields Eye Hospital , London, UK.
³ IBGRL Red Cell Reference Laboratory, NHS Blood and Transplant , Bristol, UK.
⁴ UCL Genetics Institute , London, UK.
⁵ UCL Institute of Ophthalmology, London, UK; Moorfields Eye Hospital, London, UK; Ophthalmology Department, UCSF School of Medicine, San Francisco, CA, USA.

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.