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

  • Author(s): Cheong, Sek-Shir
  • Hull, Sarah
  • Jones, Benjamin
  • Chana, Ravinder
  • Thornton, Nicole
  • Plagnol, Vincent
  • Moore, Anthony T
  • Hardcastle, Alison J
  • et al.
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.

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