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Case Reports
. 2019 Jul 15;10(7):414-420.
doi: 10.4239/wjd.v10.i7.414.

HNF1A mutation in a Thai patient with maturity-onset diabetes of the young: A case report

Nattachet Plengvidhya  1 , Watip Tangjittipokin  2 , Nipaporn Teerawattanapong  2 , Tassanee Narkdontri  2 , Pa-Thai Yenchitsomanus  2
Affiliations
Case Reports

HNF1A mutation in a Thai patient with maturity-onset diabetes of the young: A case report

Nattachet Plengvidhya et al. World J Diabetes. .

Abstract

Background: Maturity-onset diabetes of the young (MODY) is the most common form of monogenic diabetes. The disease is transmitted in autosomal dominant mode and diabetes is usually diagnosed before age 25 year. MODY 3 is caused by mutation of hepatocyte nuclear factor (HNF) 1A genes and is the most common MODY subtype. Diagnosis of MODY 3 is crucial since glycemic control can be accomplished by very low dose of sulfonylurea. In this report we described a Thai MODY 3 patient who had excellence plasma glucose control by treating with glicazide 20 mg per day and insulin therapy can be discontinued.

Case summary: A 31-year-old woman was diagnosed diabetes mellitus at 14 years old. The disease was transmitted from her grandmother and mother compatible with autosomal dominant inheritance. Sanger sequencing of proband's DNA identified mutation of HNF1A at codon 203 which changed amino acid from arginine to cysteine (R203C). This mutation was carried only by family members who have diabetes. The patient has been treated effectively with a combination of oral hypoglycemic agents and must include a very low dose of glicazide (20 mg/d). Insulin therapy was successfully discontinued.

Conclusion: We demonstrated a first case of pharmacogenetics in Thai MODY 3 patient. Our findings underscore the essential role of molecular genetics in diagnosis and guidance of appropriate treatment of diabetes mellitus in particular patient.

Keywords: Case report; HNF1A; Maturity-onset diabetes of the young; Oral sulfonylureas.

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Conflict of interest statement

Conflict-of-interest statement: The authors have no conflicts of interest to declare.

Figures

Figure 1
Figure 1
Sequencing profile of exon 3 of HNF1A in the mutation region (R203C). The green circle indicates the location of C in wild-type, and the red circle indicates the location of T substitution in heterozygous.
Figure 2
Figure 2
Pedigree showing autosomal dominant inheritance of diabetes associated with a hepatocyte nuclear factor-1-alpha mutation. Symbols and abbreviations: Circles: Females; squares: Males; Darkened circles or squares: Diabetes; NM: Heterozygous HNF1A R203C; NN: HNF1A wild-type genotype.
Figure 3
Figure 3
Timeline of patient’s glycemic control with and without sulfonylurea.
See this image and copyright information in PMC

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