ArticleThe pharmacogenomics journal2015
Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes.
Article in The pharmacogenomics journal, 2015. 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, 24 citations in OpenAlex.
- RFX6 maturity-onset diabetes of the young: clinical considerations and novel use of tirzepatide.Endocrinology, diabetes & metabolism case reports · 2026Article
- Multifaceted functions of transcription regulatory factor X6 (RFX6): from pancreatic development to cancer progression.Cancer cell international · 2025Review
- MODY Only Monogenic? A Narrative Review of theInternational journal of molecular sciences · 2024Review
- RFX6 haploinsufficiency predisposes to diabetes through impaired beta cell function.Diabetologia · 2024Article
- From glucose sensing to exocytosis: takes from maturity onset diabetes of the young.Frontiers in endocrinology · 2023Review
- Mitchell-Riley Syndrome: Improving Clinical Outcomes and Searching for Functional Impact of RFX-6 Mutations.Frontiers in endocrinology · 2022Article
- Exome sequencing in children with clinically suspected maturity-onset diabetes of the young.Pediatric diabetes · 2021Article
- A novel RFX6 heterozygous mutation (p.R652X) in maturity-onset diabetes mellitus: A case report.Journal of diabetes investigation · 2021Article
- Rfx6 promotes the differentiation of peptide-secreting enteroendocrine cells while repressing genetic programs controlling serotonin production.Molecular metabolism · 2019Article
- Comprehensive genomic analysis identifies pathogenic variants in maturity-onset diabetes of the young (MODY) patients in South India.BMC medical genetics · 2018Article
- Involvement of stanniocalcins in the deregulation of glycaemia in obese mice and type 2 diabetic patients.Journal of cellular and molecular medicine · 2018Article
- Rfx6 maintains the functional identity of adult pancreatic β cells.Cell reports · 2014Article
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Authors and funding
13 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Identification of the genetic defect underlying early-onset diabetes is important for determining the specific diabetes subtype, which would then permit appropriate treatment and accurate assessment of recurrence risk in offspring. Given the extensive genetic and clinical heterogeneity of the disease, high-throughput sequencing might provide additional diagnostic potential when Sanger sequencing is ineffective. Our aim was to develop a targeted next-generation assay able to detect mutations in several genes involved in glucose metabolism. All 13 known MODY genes, genes identified from a genome-wide linkage study or genome-wide association studies as increasing the risk of type 2 diabetes and genes causing diabetes in animal models, were included in the custom panel. We selected a total of 102 genes by performing a targeting re-sequencing in 30 patients negative for mutations in the GCK, HNF1α, HNF4α, HNF1β and IPF1 genes at the Sanger sequencing analysis. Previously unidentified variants in the RFX6 gene were found in three patients and in two of them we also detected rare variants in WFS1 and ABCC8 genes. All patients showed a good therapeutic response to dipeptidyl peptidase-4 (DPP4) inhibitors. Our study reveals that next-generation sequencing provides a highly sensitive method for identification of variants in new causative genes of diabetes. This approach may help in understanding the molecular etiology of diabetes and in providing more personalized treatment for each genetic subtype.
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