{"doi":"10.1111/pedi.13257","title":"Exome sequencing in children with clinically suspected <scp>maturity‐onset</scp> diabetes of the young","abstract":"OBJECTIVE: Commercial gene panels identify pathogenic variants in as low as 27% of patients suspected to have MODY, suggesting the role of yet unidentified pathogenic variants. We sought to identify novel gene variants associated with MODY. RESEARCH DESIGN AND METHODS: We recruited 10 children with a clinical suspicion of MODY but non-diagnostic commercial MODY gene panels. We performed exome sequencing (ES) in them and their parents. RESULTS: Mean age at diabetes diagnosis was 10 (± 3.8) years. Six were females; 4 were non-Hispanic white, 5 Hispanic, and 1 Asian. Our variant prioritization analysis identified a pathogenic, de novo variant in INS (c.94G > A, p.Gly32Ser), confirmed by Sanger sequencing, in a proband who was previously diagnosed with \"autoantibody-negative type 1 diabetes (T1D)\" at 3 y/o. This rare variant, absent in the general population (gnomAD database), has been reported previously in neonatal diabetes. We also identified a frameshift deletion (c.2650delC, p.Gln884AsnfsTer57) in RFX6 in a child with a previous diagnosis of \"autoantibody-negative T1D\" at 12 y/o. The variant was inherited from the mother, who was diagnosed with \"thin type 2 diabetes\" at 25 y/o. Heterozygous protein-truncating variants in RFX6 gene have been recently reported in individuals with MODY. CONCLUSIONS: We diagnosed two patients with MODY using ES in children initially classified as \"T1D\". One has a likely pathogenic novel gene variant not previously associated with MODY. We demonstrate the clinical utility of ES in patients with clinical suspicion of MODY.","journal":"Pediatric Diabetes","year":2021,"id":179661,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":18,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.8231,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2021-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":305757,"name":"Claudia Soler‐Alfonso","orcid":"0000-0002-0257-3684","position":1,"is_corresponding":false},{"id":94069,"name":"Katie Chan","orcid":"0000-0001-9584-9514","position":2,"is_corresponding":false},{"id":277177,"name":"Michael M. Khayat","orcid":"0000-0001-5452-3147","position":3,"is_corresponding":false},{"id":36483,"name":"Shalini N. Jhangiani","orcid":"0000-0002-6674-0074","position":4,"is_corresponding":false},{"id":364152,"name":"Qingchang Meng","orcid":"0000-0001-9783-6610","position":5,"is_corresponding":false},{"id":727972,"name":"Ahmad Refaey","orcid":null,"position":6,"is_corresponding":false},{"id":1751,"name":"Donna M. Muzny","orcid":"0000-0002-3055-0359","position":7,"is_corresponding":false},{"id":1753,"name":"Richard A. Gibbs","orcid":"0000-0002-1356-5698","position":8,"is_corresponding":false},{"id":249402,"name":"David R. Murdock","orcid":"0000-0002-8536-3091","position":9,"is_corresponding":false},{"id":281492,"name":"Jennifer E. Posey","orcid":"0000-0003-4814-6765","position":10,"is_corresponding":false},{"id":249640,"name":"Ashok Balasubramanyam","orcid":"0000-0003-2093-5201","position":11,"is_corresponding":false},{"id":7390,"name":"María J. Redondo","orcid":"0000-0001-5871-4645","position":12,"is_corresponding":false},{"id":35070,"name":" Aniko Sabo","orcid":"0000-0002-9667-8072","position":13,"is_corresponding":false},{"id":513346,"name":"Mustafa Tosur","orcid":"0000-0002-2111-271X","position":0,"is_corresponding":true}],"reference_count":47,"raw_metadata":null,"created_at":"2026-07-18T23:47:48.974996Z","pmid":"34387403","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}