Ivanoshchuk, Dinara E. and Shakhtshneider, Elena V. and Rymar, Oksana D. and Ovsyannikova, Alla K. and Mikhailova, Svetlana V. and Fishman, Veniamin S. and Valeev, Emil S. and Orlov, Pavel S. and Voevoda, Mikhail I. (2021) The Mutation Spectrum of Maturity Onset Diabetes of the Young (MODY)-Associated Genes among Western Siberia Patients. Journal of Personalized Medicine, 11 (1). p. 57. ISSN 2075-4426
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Abstract
Maturity onset diabetes of the young (MODY) is a congenital form of diabetes characterized by onset at a young age and a primary defect in pancreatic-β-cell function. Currently, 14 subtypes of MODY are known, and each is associated with mutations in a specific gene: HNF4A, GCK, HNF1A, PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS, BLK, KCNJ11, ABCC8, and APPL1. The most common subtypes of MODY are associated with mutations in the genes GCK, HNF1A, HNF4A, and HNF1B. Among them, up to 70% of cases are caused by mutations in GCK and HNF1A. Here, an analysis of 14 MODY genes was performed in 178 patients with a MODY phenotype in Western Siberia. Multiplex ligation-dependent probe amplification analysis of DNA samples from 50 randomly selected patients without detectable mutations did not reveal large rearrangements in the MODY genes. In 38 patients (37% males) among the 178 subjects, mutations were identified in HNF4A, GCK, HNF1A, and ABCC8. We identified novel potentially causative mutations p.Lys142*, Leu146Val, Ala173Glnfs*30, Val181Asp, Gly261Ala, IVS7 c.864 −1G>T, Cys371*, and Glu443Lys in GCK and Ser6Arg, IVS 2 c.526 +1 G>T, IVS3 c.713 +2 T>A, and Arg238Lys in HNF1A.
Item Type: | Article |
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Subjects: | Institute Archives > Medical Science |
Depositing User: | Managing Editor |
Date Deposited: | 05 Jan 2023 05:32 |
Last Modified: | 29 Aug 2023 04:03 |
URI: | http://eprint.subtopublish.com/id/eprint/271 |