title: Pleiotropic effect of a novel mutation inGCNT2causing congenital cataract and a rare adult i blood group phenotype.
abstract: Mutations inGCNT2have 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 ofGCNT2isoforms.
authors.affiliation: UCL Institute of Ophthalmology , London, UK.
authors.forename: Sek-Shir
authors.initials: SS
authors.lastname: Cheong
authors.affiliation: Moorfields Eye Hospital , London, UK.
authors.forename: Sarah
authors.initials: S
authors.lastname: Hull
authors.affiliation: IBGRL Red Cell Reference Laboratory, NHS Blood and Transplant , Bristol, UK.
authors.forename: Benjamin
authors.initials: B
authors.lastname: Jones
authors.affiliation: Moorfields Eye Hospital , London, UK.
authors.forename: Ravinder
authors.initials: R
authors.lastname: Chana
authors.affiliation: IBGRL Red Cell Reference Laboratory, NHS Blood and Transplant , Bristol, UK.
authors.forename: Nicole
authors.initials: N
authors.lastname: Thornton
authors.affiliation: UCL Genetics Institute , London, UK.
authors.forename: Vincent
authors.initials: V
authors.lastname: Plagnol
authors.affiliation: UCL Institute of Ophthalmology, London, UK; Moorfields Eye Hospital, London, UK; Ophthalmology Department, UCSF School of Medicine, San Francisco, CA, USA.
authors.forename: Anthony T
authors.initials: AT
authors.lastname: Moore
authors.affiliation: UCL Institute of Ophthalmology , London, UK.
authors.forename: Alison J
authors.initials: AJ
authors.lastname: Hardcastle