ArticlePediatric diabetes2021
Exome sequencing in children with clinically suspected maturity-onset diabetes of the young.
Article in Pediatric diabetes, 2021. 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, 16 citations in OpenAlex.
- Systematic analysis of loss-of-function variants across MODY genes demonstrates gene-specific effects and expands the spectrum of INS variants causing MODY.Diabetologia · 2026Article
- RFX6 expression is central to the development and function of the neuroendocrine compartments of the pancreas and intestine and strongly affects diabetes risk.Diabetology international · 2026Review
- Molecular diagnosis of maturity-onset diabetes of the young via whole-exome sequencing: a cohort study in Taizhou, China.Endocrine · 2026Article
- Case Report: A novel likely pathogenicFrontiers in endocrinology · 2026Article
- Multifaceted functions of transcription regulatory factor X6 (RFX6): from pancreatic development to cancer progression.Cancer cell international · 2025Review
- Initial clinical manifestations in a young male withClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2024Article
- RFX6 haploinsufficiency predisposes to diabetes through impaired beta cell function.Diabetologia · 2024Article
- Inaccurate diagnosis of diabetes type in youth: prevalence, characteristics, and implications.Scientific reports · 2024Article
- Autosomal Dominant, Long-Standing Dysglycemia in 2 Families with Unique Phenotypic Features.Clinical medicine insights. Endocrinology and diabetes · 2024Article
- Maturity-onset diabetes of the young type 10 caused by an Ala2Thr mutation ofWorld journal of diabetes · 2023Article
- Imprecise Diagnosis of Diabetes Type in Youth: Prevalence, Characteristics, and Implications.Research square · 2023Article
- Precision diabetes: Lessons learned from maturity-onset diabetes of the young (MODY).Journal of diabetes investigation · 2022Review
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Authors and funding
14 authors at 2 institutions in 1 country.
Funding
Abstract
objectiveCommercial gene panels identify pathogenic variants in as low as 27% of patients suspected to have MODY, suggesting the role of yet unidentified pathogenic variants. We sought to identify novel gene variants associated with MODY. RESEARCH DESIGN AND
methodsWe recruited 10 children with a clinical suspicion of MODY but non-diagnostic commercial MODY gene panels. We performed exome sequencing (ES) in them and their parents.
resultsMean age at diabetes diagnosis was 10 (± 3.8) years. Six were females; 4 were non-Hispanic white, 5 Hispanic, and 1 Asian. Our variant prioritization analysis identified a pathogenic, de novo variant in INS (c.94G > A, p.Gly32Ser), confirmed by Sanger sequencing, in a proband who was previously diagnosed with "autoantibody-negative type 1 diabetes (T1D)" at 3 y/o. This rare variant, absent in the general population (gnomAD database), has been reported previously in neonatal diabetes. We also identified a frameshift deletion (c.2650delC, p.Gln884AsnfsTer57) in RFX6 in a child with a previous diagnosis of "autoantibody-negative T1D" at 12 y/o. The variant was inherited from the mother, who was diagnosed with "thin type 2 diabetes" at 25 y/o. Heterozygous protein-truncating variants in RFX6 gene have been recently reported in individuals with MODY.
conclusionsWe diagnosed two patients with MODY using ES in children initially classified as "T1D". One has a likely pathogenic novel gene variant not previously associated with MODY. We demonstrate the clinical utility of ES in patients with clinical suspicion of MODY.
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