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KMID : 1199120080320010038
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Korean Diabetes Journal
2008 Volume.32 No. 1 p.38 ~ p.43
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Mutation Screening of HNF-1α Gene in Korean Women with Gestational Diabetes Mellitus
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Kim Hun-Sung
Chung Ho-Yeon
Hwang Sun-Hee
Choi Eun-Sun
Park So-Young
Yim Chang-Hoon
Han Ki-Ok
Kim Kyung-Seon
Bok Jeong
Lee Jong-Young
Kim Sung-Hoon
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Abstract
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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.
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KEYWORD
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Gestational diabetes mellitus, HNF-1α gene, MODY3 mutations
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