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

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...

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Detalles Bibliográficos
Autores principales: Cheong, Sek-Shir, Hull, Sarah, Jones, Benjamin, Chana, Ravinder, Thornton, Nicole, Plagnol, Vincent, Moore, Anthony T, Hardcastle, Alison J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5311056/
https://www.ncbi.nlm.nih.gov/pubmed/28224043
http://dx.doi.org/10.1038/hgv.2017.4
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author Cheong, Sek-Shir
Hull, Sarah
Jones, Benjamin
Chana, Ravinder
Thornton, Nicole
Plagnol, Vincent
Moore, Anthony T
Hardcastle, Alison J
author_facet Cheong, Sek-Shir
Hull, Sarah
Jones, Benjamin
Chana, Ravinder
Thornton, Nicole
Plagnol, Vincent
Moore, Anthony T
Hardcastle, Alison J
author_sort Cheong, Sek-Shir
collection PubMed
description 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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spelling pubmed-53110562017-02-21 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 Hum Genome Var Data Report 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. Nature Publishing Group 2017-02-16 /pmc/articles/PMC5311056/ /pubmed/28224043 http://dx.doi.org/10.1038/hgv.2017.4 Text en Copyright © 2017 The Author(s) http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 4.0 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/
spellingShingle Data Report
Cheong, Sek-Shir
Hull, Sarah
Jones, Benjamin
Chana, Ravinder
Thornton, Nicole
Plagnol, Vincent
Moore, Anthony T
Hardcastle, Alison J
Pleiotropic effect of a novel mutation in GCNT2 causing congenital cataract and a rare adult i blood group phenotype
title Pleiotropic effect of a novel mutation in GCNT2 causing congenital cataract and a rare adult i blood group phenotype
title_full Pleiotropic effect of a novel mutation in GCNT2 causing congenital cataract and a rare adult i blood group phenotype
title_fullStr Pleiotropic effect of a novel mutation in GCNT2 causing congenital cataract and a rare adult i blood group phenotype
title_full_unstemmed Pleiotropic effect of a novel mutation in GCNT2 causing congenital cataract and a rare adult i blood group phenotype
title_short Pleiotropic effect of a novel mutation in GCNT2 causing congenital cataract and a rare adult i blood group phenotype
title_sort pleiotropic effect of a novel mutation in gcnt2 causing congenital cataract and a rare adult i blood group phenotype
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5311056/
https://www.ncbi.nlm.nih.gov/pubmed/28224043
http://dx.doi.org/10.1038/hgv.2017.4
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