All issues > Volume 47(6); 2004

Original Article

Korean J Pediatr. 2004;47(6):641-646. Published online June 15, 2004.

The Prevalence of Maturity Onset Diabetes of the Young(MODY) 3 in Children with Type 2 Diabetes Mellitus

In Kyoung IK Choi¹, Duk Hee DH Kim¹, Ho-Seong HS Kim¹, Nam N Huh², Sang Hyun SH Paek², Seoung Young SY Jung²

¹Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea
²Samsung Advanced Institute of Technology, Yongin, Korea

Correspondence Duk Hee DH Kim ,Email: dhkim3@yumc.yonsei.ac.kr

Abstract

Purpose
: Maturity-onset diabetes of the young(MODY) is a subtype of type 2 diabetes defined by autosomal dominant mode of inheritance, onset of diabetes usually before the age of 25 yrs, and a primary defect in the function of the beta cells of the pancreas. MODY3 is known as the most common form and is caused by mutations in hepatocyte nuclear factor(HNF)-1α. We examined the prevalence of MODY3 in children with type 2 diabetes mellitus(DM).
Methods
: Children with type 2 DM(N=17) and their family members with type 2 DM(N=5) were enrolled. Inclusion criteria for the children were fasting C-peptide and postprandial C-peptide more than 1.0 ng/mL and 1.5 ng/mL respectively, familial type 2 DM in at least two generations, and body mass index(BMI)(kg/m2) less than 95th percentile. Genomic DNA was extracted from blood samples. We analyzed HNF-1 for mutation by DNA microarray method and direct sequencing.
Results
: We found one case with a mutation of the promoter region of HNF-1α(5'-ctaGGCTAGTGGGGTTTTGCGGGGGCAGTGGGTGCAAGG-3') in one child's family member among 22 children and adult subjects with type 2 DM.
Conclusion
: Although we found a mutation of HNF-1α in an adult family member with type 2 DM, we did not find this mutation in a child with type 2 DM. The further investigation of MODY in children, including other types, is required.

Keywords :Maturity-onset diabetes of the young(MODY), Hepatocyte nuclear factor(HNF)-1α, Children, Diabetes mellitus, Type II, Oligonucleotide Array Sequence analysis, Direct sequencing