Korean Diabetes J.  2008 Feb;32(1):38-43. 10.4093/kdj.2008.32.1.38.

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

• Kim HS
• Hwang SH
• Choi ES
• Park SY
• Yim CH
• Han KO
• Yoon HK
• Chung HY
• Kim KS
• Bok J
• Lee JY
• Kim SH

• KMID: 2298108
• DOI: http://doi.org/10.4093/kdj.2008.32.1.38

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 beta-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-1alpha gene, also known as MODY3. We investigated whether mutations in HNF-1alpha 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-1alpha gene. We evaluated the clinical characteristics of GDM women with HNF-1alpha gene mutations.
RESULTS
Five of 96 patients (5.2%) were found to have a mutation in HNF-1alpha 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-1alpha 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-1alpha gene mutations in Korean women with GDM.

Keyword

Gestational diabetes mellitus; HNF-1alpha gene; MODY3 mutations

MeSH Terms

Age of Onset
Diabetes Mellitus, Type 2
Diabetes, Gestational
Female
Glucose Intolerance
Hepatocyte Nuclear Factor 1-alpha
Humans
Insulin
Insulin Resistance
Mass Screening
Pregnancy
Promoter Regions, Genetic
Wills
Diabetes Mellitus, Type 2
Hepatocyte Nuclear Factor 1-alpha
Insulin

Figure

• 

  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.

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