AI Article Synopsis
- - Maturity onset diabetes of the young (MODY) is a genetic form of diabetes that appears in young individuals, caused by defects in pancreatic beta-cell function, with 14 known subtypes linked to specific gene mutations.
- - The most common MODY subtypes are linked to mutations in genes such as HNF1A, GCK, and HNF4A, with up to 70% of cases arising from HNF1A and HNF4A mutations.
- - In a study of 178 patients in Western Siberia, novel mutations were identified in several MODY genes among 38 individuals, highlighting the genetic diversity and complexity of this condition.
Article 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: , , , , , , , , , , , , , and . The most common subtypes of MODY are associated with mutations in the genes , , , and . Among them, up to 70% of cases are caused by mutations in and . 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 , , , and . We identified novel potentially causative mutations p.Lys142*, Leu146Val, Ala173Glnfs*30, Val181Asp, Gly261Ala, IVS7 c.864 -1G>T, Cys371*, and Glu443Lys in and Ser6Arg, IVS 2 c.526 +1 G>T, IVS3 c.713 +2 T>A, and Arg238Lys in .
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7831070 | PMC |
| http://dx.doi.org/10.3390/jpm11010057 | DOI Listing |
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