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Identification of HNF4A Mutation p.T130I and HNF1A Mutations p.I27L and p.S487N in a Han Chinese Family with Early-Onset Maternally Inherited Type 2 Diabetes
Joint Authors
Yang, Ying
Zhou, Tai-Cheng
Liu, Yong-Ying
Li, Xiao
Wang, Wen-Xue
Irwin, David M.
Zhang, Ya-Ping
Source
Issue
Vol. 2016, Issue 2016 (31 Dec. 2016), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2016-02-11
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
Maturity-onset diabetes of the young (MODY) is characterized by the onset of diabetes before the age of 25 years, positive family history, high genetic predisposition, monogenic mutations, and an autosomal dominant mode of inheritance.
Here, we aimed to investigate the mutations and to characterize the phenotypes of a Han Chinese family with early-onset maternally inherited type 2 diabetes.
Detailed clinical assessments and genetic screening for mutations in the HNF4α, GCK, HNF-1α , IPF-1, HNF1β, and NEUROD1 genes were carried out in this family.
One HNF4A mutation (p.T130I) and two HNF1A polymorphisms (p.I27L and p.S487N) were identified.
Mutation p.T130I was associated with both early-onset and late-onset diabetes and caused downregulated HNF4A expression, whereas HNF1A polymorphisms p.I27L and p.S487N were associated with the age of diagnosis of diabetes.
We demonstrated that mutation p.T130I in HNF4A was pathogenic as were the predicted polymorphisms p.I27L and p.S487N in HNF1A by genetic and functional analysis.
Our results show that mutations in HNF4A and HNF1A genes might account for this early-onset inherited type 2 diabetes.
American Psychological Association (APA)
Yang, Ying& Zhou, Tai-Cheng& Liu, Yong-Ying& Li, Xiao& Wang, Wen-Xue& Irwin, David M.…[et al.]. 2016. Identification of HNF4A Mutation p.T130I and HNF1A Mutations p.I27L and p.S487N in a Han Chinese Family with Early-Onset Maternally Inherited Type 2 Diabetes. Journal of Diabetes Research،Vol. 2016, no. 2016, pp.1-8.
https://search.emarefa.net/detail/BIM-1108069
Modern Language Association (MLA)
Yang, Ying…[et al.]. Identification of HNF4A Mutation p.T130I and HNF1A Mutations p.I27L and p.S487N in a Han Chinese Family with Early-Onset Maternally Inherited Type 2 Diabetes. Journal of Diabetes Research No. 2016 (2016), pp.1-8.
https://search.emarefa.net/detail/BIM-1108069
American Medical Association (AMA)
Yang, Ying& Zhou, Tai-Cheng& Liu, Yong-Ying& Li, Xiao& Wang, Wen-Xue& Irwin, David M.…[et al.]. Identification of HNF4A Mutation p.T130I and HNF1A Mutations p.I27L and p.S487N in a Han Chinese Family with Early-Onset Maternally Inherited Type 2 Diabetes. Journal of Diabetes Research. 2016. Vol. 2016, no. 2016, pp.1-8.
https://search.emarefa.net/detail/BIM-1108069
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1108069