ArticleHuman genetics2010
Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes.
Article in Human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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38 citing papers in PubMed, 78 citations in OpenAlex.
- Residual β cell function and monogenic variants in long-duration type 1 diabetes patients.The Journal of clinical investigation · 2019Trial
- Variation in Maturity-Onset Diabetes of the Young Genes Influence Response to Interventions for Diabetes Prevention.The Journal of clinical endocrinology and metabolism · 2017Trial
- High-fat diet accelerates pancreas pathology in theFrontiers in physiology · 2026Article
- Novel variation in theFrontiers in endocrinology · 2026Review
- Monogenic diabetes: An evidence-based clinical approach.World journal of diabetes · 2025Review
- Rare forms of monogenic diabetes in non-European individuals. First reports of CEL and RFX6 mutations from the Indian subcontinent.Acta diabetologica · 2025Article
- Common single-base insertions in the VNTR of the carboxyl ester lipase (CEL) gene are benign and also likely to arise somatically in the exocrine pancreas.Human molecular genetics · 2024Article
- Incomplete penetrance and variable expressivity in monogenic diabetes; a challenge but also an opportunity.Reviews in endocrine & metabolic disorders · 2023Review
- vamos: variable-number tandem repeats annotation using efficient motif sets.Genome biology · 2023Article
- Identification and characterization of novel carboxyl ester lipase gene variants in patients with different subtypes of diabetes.BMJ open diabetes research & care · 2023Article
- Insights into the Genetics and Signaling Pathways in Maturity-Onset Diabetes of the Young.International journal of molecular sciences · 2022Review
- How do I diagnose Maturity Onset Diabetes of the Young in my patients?Clinical endocrinology · 2022Review
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- Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases.The Journal of clinical endocrinology and metabolism · 2022Article
- 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
- Identification of potential markers for type 2 diabetes mellitus via bioinformatics analysis.Molecular medicine reports · 2020Article
- Association of a new 99-bp indel of the CEL gene promoter region with phenotypic traits in chickens.Scientific reports · 2020Article
- Pathogenic Carboxyl Ester Lipase (CEL) Variants Interact with the Normal CEL Protein in Pancreatic Cells.Cells · 2020Article
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Authors and funding
12 authors at 6 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We have previously shown that heterozygous single-base deletions in the carboxyl-ester lipase (CEL) gene cause exocrine and endocrine pancreatic dysfunction in two multigenerational families. These deletions were found in the first and fourth repeats of a variable number of tandem repeats (VNTR), which has proven challenging to sequence due to high GC-content and considerable length variation. We have therefore developed a screening method consisting of a multiplex PCR followed by fragment analysis. The method detected putative disease-causing insertions and deletions in the proximal repeats of the VNTR, and determined the VNTR-length of each allele. When blindly testing 56 members of the two families with known single-base deletions in the CEL VNTR, the method correctly assessed the mutation carriers. Screening of 241 probands from suspected maturity-onset diabetes of the young (MODY) families negative for mutations in known MODY genes (95 individuals from Denmark and 146 individuals from UK) revealed no deletions in the proximal repeats of the CEL VNTR. However, we found one Danish patient with a short, novel CEL allele containing only three VNTR repeats (normal range 7-23 in healthy controls). This allele co-segregated with diabetes or impaired glucose tolerance in the patient's family as six of seven mutation carriers were affected. We also identified individuals who had three copies of a complete CEL VNTR. In conclusion, the CEL gene is highly polymorphic, but mutations in CEL are likely to be a rare cause of monogenic diabetes.
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