ArticleMolecular genetics and metabolism2015
Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism.
Article in Molecular genetics and metabolism, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 2 of them syntheses that pooled it.
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Who cites it
23 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- American Association of Clinical Endocrinology Clinical Practice Guideline: Developing a Diabetes Mellitus Comprehensive Care Plan-2022 Update.Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists · 2022Guideline
- Clinical and Genetic Characteristics ofJournal of diabetes research · 2021Pooled it
- Breakpoint-resolved balanced t(2;12)(q35;q24.31) disruptingMetabolism open · 2026Article
- Enhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia.Communications medicine · 2025Article
- Pathogenic variation in insulin resistance genes is common in polycystic ovary syndrome (PCOS): a strategy for causal gene discovery using whole-exome sequencing (WES) in complex traits.medRxiv : the preprint server for health sciences · 2025Article
- Coinheritance of HNF1A and glucokinase variants in maturity-onset diabetes of the young.Endocrinology, diabetes & metabolism case reports · 2024Article
- The Importance of Molecular Genetic Testing for Precision Diagnostics, Management, and Genetic Counseling in MODY Patients.International journal of molecular sciences · 2024Article
- Identification of rare variants in candidate genes associated with monogenic diabetes in polish mody-x patients.Journal of diabetes and metabolic disorders · 2024Article
- Incomplete penetrance and variable expressivity in monogenic diabetes; a challenge but also an opportunity.Reviews in endocrine & metabolic disorders · 2023Review
- 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
- Comprehensive genetic screening reveals wide spectrum of genetic variants in monogenic forms of diabetes among Pakistani population.World journal of diabetes · 2021Article
- A Comprehensive Analysis of Hungarian MODY Patients-Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases.Life (Basel, Switzerland) · 2021Article
- NGS Analysis Revealed Digenic HeterozygousDiagnostics (Basel, Switzerland) · 2021Article
- A novel reverse two-hybrid method for the identification of missense mutations that disrupt protein-protein binding.Scientific reports · 2020Article
- Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients.Scientific reports · 2020Article
- Analysis of the promoter regions of disease-causing genes in maturity-onset diabetes of the young patients.Molecular biology reports · 2020Article
- New insights into KNature reviews. Endocrinology · 2020Review
- How Recent Advances in Genomics Improve Precision Diagnosis and Personalized Care of Maturity-Onset Diabetes of the Young.Current diabetes reports · 2019Review
- Challenging diagnosis of congenital hyperinsulinism in two infants of diabetic mothers with rare pathogenicInternational journal of pediatric endocrinology · 2018Article
- Variation in the clinical and genetic evaluation of undervirilized boys with bifid scrotum and hypospadias.Journal of pediatric urology · 2017Article
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Authors and funding
6 authors.
Funding
Abstract
Genetic sequencing has become a critical part of the diagnosis of certain forms of pancreatic beta cell dysfunction. Despite great advances in the speed and cost of DNA sequencing, determining the pathogenicity of variants remains a challenge, and requires sharing of sequence and phenotypic data between laboratories. We reviewed all diabetes and hyperinsulinism-associated molecular testing done at the Seattle Children's Molecular Genetics Laboratory from 2009 to 2013. 331 probands were referred to us for molecular genetic sequencing for Neonatal Diabetes (NDM), Maturity-Onset Diabetes of the Young (MODY), or Congenital Hyperinsulinism (CHI) during this period. Reportable variants were identified in 115 (35%) patients with 91 variants in one of 6 genes: HNF1A, GCK, HNF4A, ABCC8, KCNJ11, or INS. In addition to identifying 23 novel variants, we identified unusual mechanisms of inheritance, including mosaic and digenic MODY presentations. Re-analysis of all reported variants using more recently available databases led to a change in variant interpretation from the original report in 30% of cases. These results represent a resource for molecular testing of monogenic forms of diabetes and hyperinsulinism, providing a mutation spectrum for these disorders in a large North American cohort. In addition, they highlight the importance of periodic review of molecular testing results.
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