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" Pleiotropic effect of a novel mutation in GCNT2 causing congenital cataract and a rare adult i blood group phenotype. "
Cheong, Sek-Shir; Hull, Sarah; Jones, Benjamin; Chana, Ravinder; Thornton, Nicole; Plagnol, Vincent; Moore, Anthony T; Hardcastle, Alison J
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AL
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| Record Number
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907703
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LA70c74349
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| Title & Author
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Pleiotropic effect of a novel mutation in GCNT2 causing congenital cataract and a rare adult i blood group phenotype. [Article]\ Cheong, Sek-Shir; Hull, Sarah; Jones, Benjamin; Chana, Ravinder; Thornton, Nicole; Plagnol, Vincent; Moore, Anthony T; Hardcastle, Alison J
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2017
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| Title of Periodical
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UCSF
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| Abstract
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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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