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

CORC > 昆明动物研究所 > 昆明动物研究所 > 遗传资源与进化国家重点实验室 > 分子进化基因组学

	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
	Yang Y 1,2; Zhou TC 1,2,3; Liu YY 1; Li X 3; Wang WX 4; Irwin DM 5,6; Zhang YP[*]2,5
刊名	JOURNAL OF DIABETES RESEARCH
	2016
卷号	2016 期号:X 页码:e3582616
通讯作者	zhangyp@mail.kiz.ac.cn
合作状况	其它
英文摘要	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 HNF4 alpha, GCK, HNF-1 alpha, IPF-1, HNF1 beta, 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.
收录类别	SCI
资助信息	This work was supported by grants from the National Natural Science Foundation of China (no. 81260135), the training fund of Young and Middle Aged Academic Technology Leaders in Yun…
语种	英语
内容类型	期刊论文
源URL	[http://159.226.149.26:8080/handle/152453/9582]
专题	昆明动物研究所_分子进化基因组学昆明动物研究所_遗传资源与进化国家重点实验室
作者单位	1.Department of Endocrinology, The Second People’s Hospital of Yunnan Province, Kunming, Yunnan 650021, China 2.Laboratory for Conservation and Utilization of Bio-Resources, Yunnan University, Kunming, Yunnan 650091, China 3.The Central Laboratory of the Second People’s Hospital of Yunnan Province, Kunming, Yunnan 650021, China 4.Laboratory of Biochemistry and Molecular Biology, Yunnan University, Kunming, Yunnan 650091, China 5.State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan 650223, China 6.Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada M5S 2E8
推荐引用方式 GB/T 7714	Yang Y,Zhou TC,Liu YY,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[J]. JOURNAL OF DIABETES RESEARCH,2016,2016(X):e3582616.
APA	Yang Y.,Zhou TC.,Liu YY.,Li X.,Wang WX.,...&Zhang YP[*].(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,2016(X),e3582616.
MLA	Yang Y,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.X(2016):e3582616.