The Mutation Spectrum of Maturity Onset Diabetes of the Young (MODY)-Associated Genes among Western Siberia Patients.
The Mutation Spectrum of Maturity Onset Diabetes of the Young (MODY)-Associated Genes among Western Siberia Patients.
复制标题
DOI：
10.3390/jpm11010057
复制
发表时间：
2021-01-18
影响因子：
--
通讯作者：
Voevoda MI
中科院分区：
文献类型：
--
作者：
Ivanoshchuk DE;Shakhtshneider EV;Rymar OD;Ovsyannikova AK;Mikhailova SV;Fishman VS;Valeev ES;Orlov PS;Voevoda MI
青壮年型糖尿病（MODY）是一种先天性糖尿病，其特点是在年轻时发病，胰腺β细胞功能出现原发性缺陷。目前，已知有14种MODY亚型，每种亚型都与特定基因的突变有关：HNF4A、GCK、HNF1A、PDX1、HNF1B、NEUROD1、KLF11、CEL、PAX4、INS、BLK、KCNJ11、ABCC8和APPL1。最常见的MODY亚型与基因GCK、HNF1A、HNF4A和HNF1B的突变有关。其中，高达70%的病例是由GCK和HNF1A突变引起的。本文对西伯利亚西部178例MODY表型患者的14个MODY基因进行了分析。对随机选择的50例未检测到突变的患者的DNA样本进行多重连接依赖探针扩增分析，未发现MODY基因的大重排。178名受试者中有38名患者（37%为男性）在HNF4A、GCK、HNF1A和ABCC8中发现了突变。我们在GCK和Ser6Arg中发现了新的潜在致病突变p.Lys142*、Leu146Val、Ala173Glnfs*30、Val181Asp、Gly261Ala、IVS7 c.864−1G b> T、Cys371*和Glu443Lys，在HNF1A中发现了ivs2 c.526 + 1G b> T、IVS3 c.713 + 2t >A和Arg238Lys。
Maturity onset diabetes of the young (MODY) is a congenital form of diabetes characterized by onset at a young age and a primary defect in pancreatic-β-cell function. Currently, 14 subtypes of MODY are known, and each is associated with mutations in a specific gene: HNF4A, GCK, HNF1A, PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS, BLK, KCNJ11, ABCC8, and APPL1. The most common subtypes of MODY are associated with mutations in the genes GCK, HNF1A, HNF4A, and HNF1B. Among them, up to 70% of cases are caused by mutations in GCK and HNF1A. Here, an analysis of 14 MODY genes was performed in 178 patients with a MODY phenotype in Western Siberia. Multiplex ligation-dependent probe amplification analysis of DNA samples from 50 randomly selected patients without detectable mutations did not reveal large rearrangements in the MODY genes. In 38 patients (37% males) among the 178 subjects, mutations were identified in HNF4A, GCK, HNF1A, and ABCC8. We identified novel potentially causative mutations p.Lys142*, Leu146Val, Ala173Glnfs*30, Val181Asp, Gly261Ala, IVS7 c.864 −1G>T, Cys371*, and Glu443Lys in GCK and Ser6Arg, IVS 2 c.526 +1 G>T, IVS3 c.713 +2 T>A, and Arg238Lys in HNF1A.
登录
查看更多内容
影响因子：
16.2
作者：
Karges, Beate;Bergmann, Carsten;Karges, Wolfram
通讯作者：
Karges, Wolfram
影响因子：
64.8
作者：
Karczewski, Konrad J;Francioli, Laurent C;MacArthur, Daniel G
通讯作者：
MacArthur, Daniel G
最佳实践指南的成熟度糖尿病的分子遗传诊断。
影响因子：
8.2
作者：
Ellard, S.;Bellanne-Chantelot, C.;Hattersley, A. T.
通讯作者：
Hattersley, A. T.
影响因子：
12.4
作者：
George DC;Chakraborty C;Haneef SA;Nagasundaram N;Chen L;Zhu H
通讯作者：
Zhu H
影响因子：
3.9
作者：
De Franco, Elisa;Saint-Martin, Cecile;Flanagan, Sarah E.
通讯作者：
Flanagan, Sarah E.