Novel frameshift mutation in the insulin (INS) gene in a family with maturity onset diabetes of the young (MODY)

Highlights: This study reports a novel frameshift mutation c.212dupG (p.Gly73fs) in the insulin (INS) gene causing maturity onset diabetes of the young (MODY) 10, one of the rare types of MODY, identified in seven family members. Screening for mutations in identified MODY genes is warranted in patie...

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Autores principales: Xiao, Xiaoyu, Liu, Lili, Xiao, Yang, Xie, Zhiguo, Li, Long, Zhou, Houde, Tang, Weili, Liu, Shiping, Zhou, Zhiguang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Publishing Asia Pty Ltd 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7379669/
https://www.ncbi.nlm.nih.gov/pubmed/30182532
http://dx.doi.org/10.1111/1753-0407.12849
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author Xiao, Xiaoyu
Liu, Lili
Xiao, Yang
Xie, Zhiguo
Li, Long
Zhou, Houde
Tang, Weili
Liu, Shiping
Zhou, Zhiguang
author_facet Xiao, Xiaoyu
Liu, Lili
Xiao, Yang
Xie, Zhiguo
Li, Long
Zhou, Houde
Tang, Weili
Liu, Shiping
Zhou, Zhiguang
author_sort Xiao, Xiaoyu
collection PubMed
description Highlights: This study reports a novel frameshift mutation c.212dupG (p.Gly73fs) in the insulin (INS) gene causing maturity onset diabetes of the young (MODY) 10, one of the rare types of MODY, identified in seven family members. Screening for mutations in identified MODY genes is warranted in patients who require insulin, are negative for autoantibodies but have a family history of diabetes.
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spelling pubmed-73796692020-07-27 Novel frameshift mutation in the insulin (INS) gene in a family with maturity onset diabetes of the young (MODY) Xiao, Xiaoyu Liu, Lili Xiao, Yang Xie, Zhiguo Li, Long Zhou, Houde Tang, Weili Liu, Shiping Zhou, Zhiguang J Diabetes Case Report Highlights: This study reports a novel frameshift mutation c.212dupG (p.Gly73fs) in the insulin (INS) gene causing maturity onset diabetes of the young (MODY) 10, one of the rare types of MODY, identified in seven family members. Screening for mutations in identified MODY genes is warranted in patients who require insulin, are negative for autoantibodies but have a family history of diabetes. Wiley Publishing Asia Pty Ltd 2018-10-17 2019-01 /pmc/articles/PMC7379669/ /pubmed/30182532 http://dx.doi.org/10.1111/1753-0407.12849 Text en © 2018 The Authors. Journal of Diabetes published by John Wiley & Sons Australia, Ltd and Ruijin Hospital, Shanghai Jiaotong University School of Medicine. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Xiao, Xiaoyu
Liu, Lili
Xiao, Yang
Xie, Zhiguo
Li, Long
Zhou, Houde
Tang, Weili
Liu, Shiping
Zhou, Zhiguang
Novel frameshift mutation in the insulin (INS) gene in a family with maturity onset diabetes of the young (MODY)
title Novel frameshift mutation in the insulin (INS) gene in a family with maturity onset diabetes of the young (MODY)
title_full Novel frameshift mutation in the insulin (INS) gene in a family with maturity onset diabetes of the young (MODY)
title_fullStr Novel frameshift mutation in the insulin (INS) gene in a family with maturity onset diabetes of the young (MODY)
title_full_unstemmed Novel frameshift mutation in the insulin (INS) gene in a family with maturity onset diabetes of the young (MODY)
title_short Novel frameshift mutation in the insulin (INS) gene in a family with maturity onset diabetes of the young (MODY)
title_sort novel frameshift mutation in the insulin (ins) gene in a family with maturity onset diabetes of the young (mody)
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7379669/
https://www.ncbi.nlm.nih.gov/pubmed/30182532
http://dx.doi.org/10.1111/1753-0407.12849
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