A novel mutation KCNJ11 R136C caused KCNJ11-MODY

A young female patient, diagnosed with diabetes mellitus at the age of 28 years old in 2009, carries KCNJ11 R136C by whole exome sequencing and her daughter doesn’t carry this mutation. Bioinformatics software predicted that the 136th amino acid is highly conservative and the mutation is deleterious...

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Autores principales: Chen, Yaning, Hu, Xiaodong, Cui, Jia, Zhao, Mingwei, Yao, Hebin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8406974/
https://www.ncbi.nlm.nih.gov/pubmed/34465386
http://dx.doi.org/10.1186/s13098-021-00708-6
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author Chen, Yaning
Hu, Xiaodong
Cui, Jia
Zhao, Mingwei
Yao, Hebin
author_facet Chen, Yaning
Hu, Xiaodong
Cui, Jia
Zhao, Mingwei
Yao, Hebin
author_sort Chen, Yaning
collection PubMed
description A young female patient, diagnosed with diabetes mellitus at the age of 28 years old in 2009, carries KCNJ11 R136C by whole exome sequencing and her daughter doesn’t carry this mutation. Bioinformatics software predicted that the 136th amino acid is highly conservative and the mutation is deleterious. KCNJ11 R136C can result in the change of channel port structure of K(ATP) channel. So she was diagnosed as KCNJ11-MODY.
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spelling pubmed-84069742021-08-31 A novel mutation KCNJ11 R136C caused KCNJ11-MODY Chen, Yaning Hu, Xiaodong Cui, Jia Zhao, Mingwei Yao, Hebin Diabetol Metab Syndr Short Report A young female patient, diagnosed with diabetes mellitus at the age of 28 years old in 2009, carries KCNJ11 R136C by whole exome sequencing and her daughter doesn’t carry this mutation. Bioinformatics software predicted that the 136th amino acid is highly conservative and the mutation is deleterious. KCNJ11 R136C can result in the change of channel port structure of K(ATP) channel. So she was diagnosed as KCNJ11-MODY. BioMed Central 2021-08-31 /pmc/articles/PMC8406974/ /pubmed/34465386 http://dx.doi.org/10.1186/s13098-021-00708-6 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Short Report
Chen, Yaning
Hu, Xiaodong
Cui, Jia
Zhao, Mingwei
Yao, Hebin
A novel mutation KCNJ11 R136C caused KCNJ11-MODY
title A novel mutation KCNJ11 R136C caused KCNJ11-MODY
title_full A novel mutation KCNJ11 R136C caused KCNJ11-MODY
title_fullStr A novel mutation KCNJ11 R136C caused KCNJ11-MODY
title_full_unstemmed A novel mutation KCNJ11 R136C caused KCNJ11-MODY
title_short A novel mutation KCNJ11 R136C caused KCNJ11-MODY
title_sort novel mutation kcnj11 r136c caused kcnj11-mody
topic Short Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8406974/
https://www.ncbi.nlm.nih.gov/pubmed/34465386
http://dx.doi.org/10.1186/s13098-021-00708-6
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