ArticleMolecular genetics & genomic medicine2019
Targeted sequencing identifies novel variants in common and rare MODY genes.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Clinical and Genetic Characteristics ofJournal of diabetes research · 2021Pooled it
- Identification of maturity-onset diabetes of the young through targeted next-generation sequencing in Thai patients with atypical diabetes in real-world practice.Frontiers in endocrinology · 2026Article
- Sulphonylurea efficacy and end-organ outcomes in the management of HNF4A-MODY.Diabetic medicine : a journal of the British Diabetic Association · 2025Article
- Enhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia.Communications medicine · 2025Article
- Prevalence and Clinical Characteristics of NEUROD1-MODY in Chinese Early-Onset Type 2 Diabetes Mellitus and a Literature Review.Journal of diabetes · 2025Review
- Autosomal Dominant, Long-Standing Dysglycemia in 2 Families with Unique Phenotypic Features.Clinical medicine insights. Endocrinology and diabetes · 2024Article
- Clinical screening for GCK-MODY in 2,989 patients from the Brazilian Monogenic Diabetes Study Group (BRASMOD) and the Brazilian Type 1 Diabetes Study Group (BrazDiab1SG).Archives of endocrinology and metabolism · 2024Article
- Phenotypic and molecular reanalysis of a cohort of patients with monogenic diabetes reveals a case of partial lipodystrophy due to the A8344G mutation in the mitochondrial DNA.Archives of endocrinology and metabolism · 2024Article
- Article
- The performance of the MODY calculator in a non-Caucasian, mixed-race population diagnosed with diabetes mellitus before 35 years of age.Diabetology & metabolic syndrome · 2023Article
- From glucose sensing to exocytosis: takes from maturity onset diabetes of the young.Frontiers in endocrinology · 2023Review
- A case report of maturity-onset diabetes of the young (MODY12) in a Chinese Han patient with a novel ABCC8 gene mutation.Medicine · 2022Article
- Next Generation Sequencing Analysis of MODY-X Patients: A Case Report Series.Journal of personalized medicine · 2022Article
- Low genetic confirmation rate in South Indian subjects with a clinical diagnosis of maturity-onset diabetes of the young (MODY) who underwent targeted next-generation sequencing for 13 genes.Journal of endocrinological investigation · 2022Article
- Identification of Variants Responsible for Monogenic Forms of Diabetes in Brazil.Frontiers in endocrinology · 2022Article
- Diabetes Mellitus Diagnosed in Childhood and Adolescence With Negative Autoimmunity: Results of Genetic Investigation.Frontiers in endocrinology · 2022Article
- Maturity Onset Diabetes of the Young-New Approaches for Disease Modelling.International journal of molecular sciences · 2021Review
- GAD-65 antibodies in a case of HNF1A-Maturity-Onset Diabetes of the Young: Double diabetes?Clinical case reports · 2021Article
- Monogenic Diabetes: From Genetic Insights to Population-Based Precision in Care. Reflections From aDiabetes care · 2020Review
- Targeted sequencing identifies novel variants in common and rare MODY genes.Molecular genetics & genomic medicine · 2019Article
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19 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMaturity-onset diabetes of the young (MODY) is a form of monogenic diabetes with autosomal dominant inheritance. To date, mutations in 11 genes have been frequently associated with this phenotype. In Brazil, few cohorts have been screened for MODY, all using a candidate gene approach, with a high prevalence of undiagnosed cases (MODY-X).
methodsWe conducted a next-generation sequencing target panel (tNGS) study to investigate, for the first time, a Brazilian cohort of MODY patients with a negative prior genetic analysis. One hundred and two patients were selected, of which 26 had an initial clinical suspicion of MODY-GCK and 76 were non-GCK MODY.
resultsAfter excluding all benign and likely benign variants and variants of uncertain significance, we were able to assign a genetic cause for 12.7% (13/102) of the probands. Three rare MODY subtypes were identified (PDX1/NEUROD1/ABCC8), and eight variants had not been previously described/mapped in genomic databases. Important clinical findings were evidenced in some cases after genetic diagnosis, such as MODY-PDX1/HNF1B.
conclusionA multiloci genetic approach allowed the identification of rare MODY subtypes, reducing the large percentage of MODY-X in Brazilian cases and contributing to a better clinical, therapeutic, and prognostic characterization of these rare phenotypes.
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