Observational studyMolecular genetics & genomic medicine2019
The first case of NEUROD1-MODY reported in Latin America.
Observational study 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 12 papers.
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Who cites it
12 citing papers in PubMed.
- Identification and functional characterization of a novel mutation in the NEUROD1 gene in a Chinese family with maturity-onset diabetes of the young.Acta diabetologica · 2026Article
- Prevalence and Clinical Characteristics of NEUROD1-MODY in Chinese Early-Onset Type 2 Diabetes Mellitus and a Literature Review.Journal of diabetes · 2025Review
- A novel nonsense mutation c.747C>G in the NEUROD1 gene detected within a Chinese family affected by maturity-onset diabetes of the young type 6.Journal of diabetes · 2024Article
- Stress Induced Hyperglycemia in Early Childhood as a Clue for the Diagnosis of NEUROD1-MODYJournal of clinical research in pediatric endocrinology · 2024Article
- Current views on etiology, diagnosis, epidemiology and gene therapy of maturity onset diabetes in the young.Frontiers in endocrinology · 2024Review
- Identification of gene mutations associated with type 1 diabetes by next-generation sequencing in affected Palestinian families.Frontiers in genetics · 2023Article
- Diabetes Mellitus Diagnosed in Childhood and Adolescence With Negative Autoimmunity: Results of Genetic Investigation.Frontiers in endocrinology · 2022Article
- NEUROD1 mutation in an Italian patient with maturity onset diabetes of the young 6: a case report.BMC endocrine disorders · 2021Article
- Human Pluripotent Stem Cells Go Diabetic: A Glimpse on Monogenic Variants.Frontiers in endocrinology · 2021Review
- The epidemiology, molecular pathogenesis, diagnosis, and treatment of maturity-onset diabetes of the young (MODY).Clinical diabetes and endocrinology · 2020Review
- Treatment Options for MODY Patients: A Systematic Review of Literature.Diabetes therapy : research, treatment and education of diabetes and related disorders · 2020Review
- The first case of NEUROD1-MODY reported in Latin America.Molecular genetics & genomic medicine · 2019Observational
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8 authors.
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Abstract
backgroundMODY-NEUROD1 is a rare form of monogenic diabetes caused by mutations in Neuronal differentiation 1 (NEUROD1). Until now, only a few cases of MODY-NEUROD1 have been reported worldwide and the real contribution of mutations in NEUROD1 in monogenic diabetes and its clinical impact remain unclear.
methodsGenomic DNA was isolated from peripheral blood lymphocytes of 25 unrelated Brazilians patients with clinical characteristics suggestive of monogenic diabetes and the screening of the entire coding region of NEUROD1 was performed by Sanger sequencing.
resultsWe identified one novel frameshift deletion (p.Phe256Leufs*2) in NEUROD1 segregating in an autosomal dominant inheritance fashion. Almost 20 years after the first report of NEUROD1-MODY, only a few families in Europe and Asia had shown mutations in NEUROD1 as the cause of monogenic diabetes.
conclusionTo our knowledge, we described the first case of NEUROD1-MODY in a Latin American family.
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