Pleiotropic effect of a novel mutation in GCNT2 causing congenital cataract and a rare adult i blood group phenotype
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Author(s)
Type
Journal Article
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.
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.
Date Issued
2017-02-16
Date Acceptance
2017-01-06
Citation
Human Genome Variation, 2017, 4
ISSN
2054-345X
Publisher
Nature Publishing Group
Journal / Book Title
Human Genome Variation
Volume
4
Copyright Statement
This work is licensed under a Creative Commons Attribution 4.0
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article are included in the article’s Creative Commons license, unless indicated
otherwise in the credit line; if the material is not included under the Creative Commons
license, users will need to obtain permission from the license holder to reproduce the
material. To view a copy of this license, visit http://creativecommons.org/licenses/
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© The Author(s) 2017
International License. The images or other third party material in this
article are included in the article’s Creative Commons license, unless indicated
otherwise in the credit line; if the material is not included under the Creative Commons
license, users will need to obtain permission from the license holder to reproduce the
material. To view a copy of this license, visit http://creativecommons.org/licenses/
by/4.0/
© The Author(s) 2017
License URL
Publication Status
Published
Article Number
17004
Date Publish Online
2017-02-16