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在亚洲人群的青年发病的成年型糖尿病 3 型中发现 HNF1α 的一个新的无义突变。

A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population.

机构信息

Department of Endocrinology, 2nd Affiliated Hospital of Soochow University, Suzhou 215004, China.

School of Basic Medicine and Biological Sciences, Medical College of Soochow University, Suzhou 215123, China.

出版信息

Diabetes Res Clin Pract. 2015 Aug;109(2):e5-7. doi: 10.1016/j.diabres.2015.05.026. Epub 2015 May 15.

DOI:10.1016/j.diabres.2015.05.026
PMID:26050565
Abstract

We reported a novel nonsense mutation, R54X of the hepatic nuclear factor 1α (HNF1α) gene in a Chinese family. The mutation was identified in a 47 years old woman and her 19 years old daughter within a five-family members tested. Both the two patients were sensitive to insulin and glibenclamide treatments.

摘要

我们报道了一个新的肝核因子 1α（HNF1α）基因突变，R54X，该基因存在于一个五口之家的 47 岁女性及其 19 岁的女儿中。这两位患者对胰岛素和格列本脲治疗均敏感。

相似文献

[1]
A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population.

Diabetes Res Clin Pract. 2015-5-15

[2]
A family with a novel termination mutation in hepatic nuclear factor 1α in maturity-onset diabetes of the young type 3 which is unresponsive to sulphonylurea therapy.

Horm Res Paediatr. 2014

[3]
Maturity-Onset Diabetes of the Young (MODY) caused by a novel nonsense mutation E41X in the HNF-1α gene.

Exp Clin Endocrinol Diabetes. 2011-3

[4]
New HNF-1α nonsense mutation causes maturity-onset diabetes of the young type 3.

Clinics (Sao Paulo). 2011

[5]
Japanese boy with maturity-onset diabetes of the young type 3 who developed diabetes at 19 months old.

Pediatr Int. 2013-4

[6]
[Hepatocyte nuclear factor 1α-inactivated hepatocellular adenomatosis in a patient with maturity-onset diabetes of the young type 3: case report and literature review].

Nihon Shokakibyo Gakkai Zasshi. 2015

[7]
Lysine 117 Residue Is Essential for the Function of the Hepatocyte Nuclear Factor 1α.

Diabetes. 2023-10-1

[8]
Etiology of early-onset type 2 diabetes in Indians: islet autoimmunity and mutations in hepatocyte nuclear factor 1alpha and mitochondrial gene.

J Clin Endocrinol Metab. 2007-7

[9]
Effect of mutation at c.493T>C locus of transcription factor HNF1α gene on its protein level.

Yi Chuan. 2024-3-20

[10]
A prevalent amino acid polymorphism at codon 98 (Ala98Val) of the hepatocyte nuclear factor-1alpha is associated with maturity-onset diabetes of the young and younger age at onset of type 2 diabetes in Asian Indians.

Diabetes Care. 2005-10

引用本文的文献

[1]
Precision treatment of beta-cell monogenic diabetes: a systematic review.

Commun Med (Lond). 2024-7-18

[2]
Systematic Review of Treatment of Beta-Cell Monogenic Diabetes.

medRxiv. 2023-9-22

[3]
HNF1A：From Monogenic Diabetes to Type 2 Diabetes and Gestational Diabetes Mellitus.

Front Endocrinol (Lausanne). 2022

[4]
Recognition of maturity-onset diabetes of the young in China.

J Diabetes Investig. 2021-4

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