ArticleThe Journal of clinical endocrinology and metabolism2018
Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA.
Article in The Journal of clinical endocrinology and metabolism, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Clinical and Molecular Heterogeneity Underlying Monogenic Causes of Pediatric Diabetes Associated to Brain Developmental Disorders.Clinical genetics · 2025Pooled it
- Diagnostic Yield of Exome Sequencing in Patients With Congenital Heart Disease From Southern Africa.Circulation. Genomic and precision medicine · 2026Article
- The role of SLC19A2 variants in the wide spectrum of non-autoimmune abnormalities of glucose homeostasis.Diabetologia · 2025Article
- The Identification of a Novel Pathogenic Variant in the GATA6 Gene in a Child with Neonatal Diabetes.International journal of molecular sciences · 2024Article
- Targeting β-Cell Plasticity: A Promising Approach for Diabetes Treatment.Current issues in molecular biology · 2024Review
- Monogenic Diabetes with GATA6 Mutations: Characterization of a Novel Family and a Comprehensive Analysis of the GATA6 Clinical and Genetics Traits.Molecular biotechnology · 2024Review
- Clinical characteristics and genetic analysis of a child with specific type of diabetes mellitus caused by missense mutation ofZhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2023Article
- A genomic data archive from the Network for Pancreatic Organ donors with Diabetes.Scientific data · 2023Article
- An HNF1α truncation associated with maturity-onset diabetes of the young impairs pancreatic progenitor differentiation by antagonizing HNF1β function.Cell reports · 2022Article
- Modeling Maturity Onset Diabetes of the Young in Pluripotent Stem Cells: Challenges and Achievements.Frontiers in endocrinology · 2021Review
- Histological validation of a type 1 diabetes clinical diagnostic model for classification of diabetes.Diabetic medicine : a journal of the British Diabetic Association · 2020Article
- Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation.BMC medical genetics · 2020Article
- GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum.American journal of medical genetics. Part A · 2019Article
- Relative Pancreas Volume Is Reduced in First-Degree Relatives of Patients With Type 1 Diabetes.Diabetes care · 2019Article
- Use of human islets to understand islet biology and diabetes: progress, challenges and suggestions.Diabetologia · 2019Review
- Human islets expressing HNF1A variant have defective β cell transcriptional regulatory networks.The Journal of clinical investigation · 2019Article
- Islet amyloidosis in a child with type 1 diabetes.Islets · 2019Article
- Congenital Diabetes: Comprehensive Genetic Testing Allows for Improved Diagnosis and Treatment of Diabetes and Other Associated Features.Current diabetes reports · 2018Review
- α Cell Function and Gene Expression Are Compromised in Type 1 Diabetes.Cell reports · 2018Article
Corrections and comments
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Authors and funding
14 authors at 2 institutions in 1 country.
Funding
Abstract
Context: Monogenic diabetes is thought to account for 2% of all diabetes cases, but most patients receive misdiagnoses of type 1 or type 2 diabetes. To date, little is known about the histopathological features of pancreata from patients with monogenic diabetes. Objective: Retrospective study of the JDRF Network for Pancreatic Organ Donors with Diabetes biorepository to identify possible cases of monogenic diabetes and to compare effects of genetic variants on pancreas histology. Methods: We selected cases of diabetes for genetic testing on the basis of criteria that included young age at diagnosis, low body mass index, negative autoantibody status, and/or detectable C-peptide level. Samples underwent next-generation-targeted sequencing of 140 diabetes/diabetes-related genes. Pancreas weight and histopathology were reviewed. Results: Forty-one of 140 cases of diabetes met the clinical inclusion criteria, with 38 DNA samples available. Genetic variants of probable clinical significance were found in four cases: one each in KCNJ11, HNF1A, GATA6, and LMNA. The KCNJ11 and HNF1A samples had significantly decreased pancreas weight and insulin mass similar to that of type 1 diabetes but had no insulitis. The GATA6 sample had severe pancreatic atrophy but with abundant β cells and severe amyloidosis similar to type 2 diabetes. The LMNA sample had preserved pancreas weight and insulin mass but abnormal islet architecture and exocrine fatty infiltrates. Conclusions: Four cases of diabetes had putative causal variants in monogenic diabetes genes. This study provides further insight into the heterogeneous nature of monogenic diabetes cases that exhibited clinical and pathophysiological features that overlap with type 1/type 2 diabetes.
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