ArticleBMC genetics2014
Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model.
Article in BMC genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.
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Who cites it
32 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- Missense mutation of ISL1 (E283D) is associated with the development of type 2 diabetes.Diabetologia · 2024Article
- Characterization of genetic variants of GIPR reveals a contribution of β-arrestin to metabolic phenotypes.Nature metabolism · 2024Article
- Unveiling Diabetes: Categories, Genetics, Diagnostics, Treatments, and Future Horizons.Current diabetes reviews · 2024Review
- Rare Heterozygous Loss-of-Function Variants in the Human GLP-1 Receptor Are Not Associated With Cardiometabolic Phenotypes.The Journal of clinical endocrinology and metabolism · 2023Article
- Identification of pathogenicMolecular genetics and metabolism reports · 2023Article
- ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents.Pediatric diabetes · 2022Article
- Monogenic diabetes variants in Emirati women with gestational diabetes are associated with risk of non-autoimmune diabetes within 5 years after pregnancy.Metabolism open · 2022Article
- Precision therapy for three Chinese families with maturity-onset diabetes of the young (MODY12).Frontiers in endocrinology · 2022Article
- Recognition of maturity-onset diabetes of the young in China.Journal of diabetes investigation · 2021Article
- Obesity treatment effect in Danish children and adolescents carrying Melanocortin-4 Receptor mutations.International journal of obesity (2005) · 2021 · on this mapArticle
- Mutational Analysis of a Familial Adenomatous Polyposis Pedigree with Bile Duct Polyp Phenotype.Canadian journal of gastroenterology & hepatology · 2021Article
- Novel Likely Pathogenic Variants Identified by Panel-Based Exome Sequencing in Congenital Cataract Patients.Journal of ophthalmology · 2021Article
- Functional Characterization of a Novel Heterozygous Mutation in the Glucokinase Gene That Causes MODY2 in Chinese Pedigrees.Frontiers in endocrinology · 2021Article
- GLP-1 Receptor Agonist Treatment in Morbid Obesity and Type 2 Diabetes Due to Pathogenic Homozygous Melanocortin-4 Receptor Mutation: A Case Report.Cell reports. Medicine · 2020 · on this mapArticle
- Adults with pathogenic MC4R mutations have increased final height and thereby increased bone mass.Journal of bone and mineral metabolism · 2020Article
- Maturity-Onset Diabetes of the Young Identified Among Algerian Probands with Early-Onset Diabetes.Diabetes, metabolic syndrome and obesity : targets and therapy · 2020Article
- Screening of 31 genes involved in monogenic forms of obesity in 23 Pakistani probands with early-onset childhood obesity: a case report.BMC medical genetics · 2019Article
- Article
- Increased frequency of rare missense PPP1R3B variants among Danish patients with type 2 diabetes.PloS one · 2019Article
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10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMonogenic diabetes is a genetic disease often caused by mutations in genes involved in beta-cell function. Correct sub-categorization of the disease is a prerequisite for appropriate treatment and genetic counseling. Target-region capture sequencing is a combination of genomic region enrichment and next generation sequencing which might be used as an efficient way to diagnose various genetic disorders. We aimed to develop a target-region capture sequencing platform to screen 117 selected candidate genes involved in metabolism for mutations and to evaluate its performance using monogenic diabetes as a study-model.
resultsThe performance of the assay was evaluated in 70 patients carrying known disease causing mutations previously identified in HNF4A, GCK, HNF1A, HNF1B, INS, or KCNJ11. Target regions with a less than 20-fold sequencing depth were either introns or UTRs. When only considering translated regions, the coverage was 100% with a 50-fold minimum depth. Among the 70 analyzed samples, 63 small size single nucleotide polymorphisms and indels as well as 7 large deletions and duplications were identified as being the pathogenic variants. The mutations identified by the present technique were identical with those previously identified through Sanger sequencing and Multiplex Ligation-dependent Probe Amplification.
conclusionsWe hereby demonstrated that the established platform as an accurate and high-throughput gene testing method which might be useful in the clinical diagnosis of monogenic diabetes.
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