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Kim, Hwang, Choi, Park, Yim, Han, Yoon, Chung, Kim, Bok, Lee, and Kim: Mutation Screening of HNF-1α Gene in Korean Women with Gestational Diabetes Mellitus
Original Article
Korean Diabetes Journal

Korean Diabetes Journal 2008; 32(1): 38-43.

Published online: 29 February 2008

DOI: https://doi.org/10.4093/kdj.2008.32.1.38

Mutation Screening of HNF-1α Gene in Korean Women with Gestational Diabetes Mellitus

Hun-Sung Kim, Sun-Hee Hwang, Eun-Sun Choi, So-Young Park, Chang-Hoon Yim, Ki-Ok Han, Hyun-Koo Yoon, Ho-Yeon Chung1, Kyung-Seon Kim2, Jeong Bok2, Jong-Young Lee2, Sung-Hoon Kim

Department of Medicine, Cheil General Hospital & Women's Healthcare Center, Kwandong University College of Medicine, Korea.

1Department of Medicine, Kyung Hee University College of Medicine, Korea.

2Center for Genome Science, National Genome Research Institute, NIH, Korea.

Received 15 October 2007       Accepted 12 December 2007

Copyright © 2008 Korean Diabetes Association

Abstract

Backgrounds

Gestational diabetes mellitus (GDM) is defined as glucose intolerance with onset or first detection during pregnancy and mostly caused by insulin resistance and β-cell dysfunction like type 2 diabetes. However, autoimmune or monogenic diabetes can contribute to GDM. Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes characterized by an early age of onset and an autosomal dominant pattern of inheritance. Most MODY cases are attributable to mutations in HNF-1α gene, also known as MODY3. We investigated whether mutations in HNF-1α gene are present in Korean women with GDM.

Methods

A total of 96 Korean women with GDM who have a family history of DM were screened for mutations in the HNF-1α gene. We evaluated the clinical characteristics of GDM women with HNF-1α gene mutations.

Results

Five of 96 patients (5.2%) were found to have a mutation in HNF-1α gene. Four of those (-23C > G, 833G > A (Arg278Gln), 923C > T, IVS5 + 106A > G) were novel and one (-124G > C) in promoter region was reported in previous study. The mean age of GDM women with mutations of HNF-1α gene was 34 years. Four women with MODY3 gene mutations required insulin therapy during pregnancy. GDM women with MODY3 gene mutations appeared to be decreased insulin secretion (HOMA-%B) than those without mutations.

Conclusions

We have found the existence of MODY3 as well as novel HNF-1α gene mutations in Korean women with GDM.

Keywords: Gestational diabetes mellitus, HNF-1α gene, MODY3 mutations

Figures and Tables

Fig. 1
Pedigree of one GDM proband who has HNF-1α gene mutation. Individuals with Type 2 diabetes mellitus are indicated by black symbol. Nondiabetic individuals are indicated by white symbol. The arrow indicates the proband. Diet, Diet therapy; INS, Insulin therapy; OAD, oral antidiabetics.
kdj-32-38-g001
Table 1
Clinical characteristics of 96 women with GDM
kdj-32-38-i001

Data are means ± SD, unless otherwise indicated.

Table 2
Sequences of primers for amplification and sequencing of exons and flanking introns of the human HNF-1α gene
kdj-32-38-i002
Table 3
Summary of mutations in the HNF-1α gene
kdj-32-38-i003
Table 4
Clinical characteristics of 5 GDM women with HNF-1α gene mutations
kdj-32-38-i004

BMI, body mass index; DM, diabetes mellitus; IFG, impaired fasting glucose; IGT, impaired glucose tolerance.

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