ArticleJournal of pediatric endocrinology & metabolism : JPEM2021
Frequency and characterization of mutations in genes in a large cohort of patients referred to MODY registry.
Article in Journal of pediatric endocrinology & metabolism : JPEM, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 16 citations in OpenAlex.
- Breakpoint-resolved balanced t(2;12)(q35;q24.31) disruptingMetabolism open · 2026Article
- Genetic Structure of Hereditary Forms of Diabetes Mellitus in Russia.International journal of molecular sciences · 2025Article
- Identification of rare variants in candidate genes associated with monogenic diabetes in polish mody-x patients.Journal of diabetes and metabolic disorders · 2024Article
- A synonymousMolecular genetics and metabolism reports · 2024Article
- Insulin Secretion Defect in Children and Adolescents with Obesity: Clinical and Molecular Genetic Characterization.Journal of diabetes research · 2024Article
- Monogenic diabetes.Nature reviews. Disease primers · 2023Review
- Targeted gene panel analysis of Japanese patients with maturity-onset diabetes of the young-like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes.Journal of diabetes investigation · 2023Article
- Monogenic diabetes in New Zealand - An audit based revision of the monogenic diabetes genetic testing pathway in New Zealand.Frontiers in endocrinology · 2023Article
- Association of BMI and WC for insulin resistance and type 2 diabetes among Brazilian adolescents.Jornal de pediatriaArticle
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
objectivesThere have been few large-scale studies utilizing exome sequencing for genetically undiagnosed maturity onset diabetes of the young (MODY), a monogenic form of diabetes that is under-recognized. We describe a cohort of 160 individuals with suspected monogenic diabetes who were genetically assessed for mutations in genes known to cause MODY.
methodsWe used a tiered testing approach focusing initially on
resultsSixty (37.5%) probands had heterozygous likely pathogenic/pathogenic variants in one of the MODY genes, 90% of which were in
conclusionsOur study is one of the largest and most ethnically diverse studies using exome sequencing to assess MODY genes. Tiered testing is an effective strategy to genetically diagnose atypical diabetes, and familial cascade genetic testing identified on average one additional family member with monogenic diabetes for each mutation identified in a proband.
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