HNF1α Associated Novel Missense Mutation Associated with MODY-3 and Type 2 Diabetes in an Indian Family |Biomedgrid
Journal: American Journal of Biomedical Science & Research (Vol.19, No. 2)Publication Date: 2023-06-13
Authors : Kanjaksha Ghosh; Kinanka Ghosh; Bipin Kulkarni;
Page : 221-223
Keywords : MODY-3; HNF1α Mutation; India; Diabetes; NIDDM;
Abstract
Commonest cause of Maturity onset Diabetes Mellitus of the Young (MODY) in European ancestry is the inheritance of mutation in HNF1α gene. Though MODY is not uncommon in India but extensive genetic studies in this condition is lacking. We report here a novel base change in the aforementioned gene leading to MODY as well as NIDDM in the members of the same family.
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