Mutations in Hnf1a Gene Are Not a Common Cause of Familial Young-Onset Diabetes in Iran Publisher



Moghbeli M¹ ; Naghibzadeh B² ; Ghahraman M^{2, 3} ; Fatemi S⁴ ; Taghavi M⁵ ; Vakili R⁶ ; Abbaszadegan MR^{2, 3}
Source: Indian Journal of Clinical Biochemistry Published:2018

Abstract

Mutations in hepatocyte nuclear factor-1 alpha (HNF1A) as a homeodomain transcription factor which regulates variety of genes, are the most common cause of maturity-onset diabetes of the young (MODY). Detection of HNF1A mutations not only classifies the subtype, but also predicts the likely clinical course and may alters the method of treatment from insulin to the oral sulphonylureas, which is shown to improve glycemic control. The coding and promoter regions of HNF1A gene were screened for mutations in 34 unrelated Iranian MODY patients. We identified one novel missense mutation (C49G) and two novel polymorphisms and 8 recently identified SNPs in the HNF1A gene. It is possible that in Iran, other yet to be identified genes are responsible for the familial young onset diabetes. Hence, there is a need for more extensive genetic analyses in Iranian patients with familial young onset diabetes. © 2017, Association of Clinical Biochemists of India.