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Article

The Mutation Spectrum of Maturity Onset Diabetes of the Young (MODY)-Associated Genes among Western Siberia Patients

1
Federal Research Center Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences (SB RAS), Prospekt Lavrentyeva 10, 630090 Novosibirsk, Russia
2
Institute of Internal and Preventive Medicine—Branch of Institute of Cytology and Genetics, SB RAS, Bogatkova Str. 175/1, 630004 Novosibirsk, Russia
*
Author to whom correspondence should be addressed.
J. Pers. Med. 2021, 11(1), 57; https://doi.org/10.3390/jpm11010057
Received: 10 December 2020 / Revised: 13 January 2021 / Accepted: 13 January 2021 / Published: 18 January 2021
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. View Full-Text
Keywords: maturity onset diabetes of the young; MODY; diabetes mellitus; multiplex ligation-dependent probe amplification; next-generation sequencing; GCK; HNF1A; HNF4A; HNF1B; single-nucleotide variant; population maturity onset diabetes of the young; MODY; diabetes mellitus; multiplex ligation-dependent probe amplification; next-generation sequencing; GCK; HNF1A; HNF4A; HNF1B; single-nucleotide variant; population
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MDPI and ACS Style

Ivanoshchuk, D.E.; Shakhtshneider, E.V.; Rymar, O.D.; Ovsyannikova, A.K.; Mikhailova, S.V.; Fishman, V.S.; Valeev, E.S.; Orlov, P.S.; Voevoda, M.I. The Mutation Spectrum of Maturity Onset Diabetes of the Young (MODY)-Associated Genes among Western Siberia Patients. J. Pers. Med. 2021, 11, 57. https://doi.org/10.3390/jpm11010057

AMA Style

Ivanoshchuk DE, Shakhtshneider EV, Rymar OD, Ovsyannikova AK, Mikhailova SV, Fishman VS, Valeev ES, Orlov PS, Voevoda MI. The Mutation Spectrum of Maturity Onset Diabetes of the Young (MODY)-Associated Genes among Western Siberia Patients. Journal of Personalized Medicine. 2021; 11(1):57. https://doi.org/10.3390/jpm11010057

Chicago/Turabian Style

Ivanoshchuk, Dinara E., Elena V. Shakhtshneider, Oksana D. Rymar, Alla K. Ovsyannikova, Svetlana V. Mikhailova, Veniamin S. Fishman, Emil S. Valeev, Pavel S. Orlov, and Mikhail I. Voevoda 2021. "The Mutation Spectrum of Maturity Onset Diabetes of the Young (MODY)-Associated Genes among Western Siberia Patients" Journal of Personalized Medicine 11, no. 1: 57. https://doi.org/10.3390/jpm11010057

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