{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Whittle EF"],"funding":["NICHD NIH HHS","Medical Research Council","National Institute for Health Research (NIHR)","NINDS NIH HHS","NIGMS NIH HHS"],"pagination":["100332"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9905285"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["25(2)"],"pubmed_abstract":["<h4>Purpose</h4>This study aimed to establish the genetic cause of a novel autosomal recessive neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities.<h4>Methods</h4>We performed a detailed clinical characterization of 4 unrelated individuals from consanguineous families with a neurodevelopmental disorder. We used exome sequencing or targeted-exome sequencing, cosegregation, in silico protein modeling, and functional analyses of variants in HEK293 cells and Drosophila melanogaster, as well as in proband-derived fibroblast cells.<h4>Results</h4>In the 4 individuals, we identified 3 novel homozygous variants in oxoglutarate dehydrogenase (OGDH) (NM_002541.3), which encodes a subunit of the tricarboxylic acid cycle enzyme α-keto"],"journal":["Genetics in medicine : official journal of the American College of Medical Genetics"],"pubmed_title":["Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities."],"pmcid":["PMC9905285"],"funding_grant_id":["MR/S01165X/1","P20 GM103636","G0601943","MR/N013638/1","NIHR205088","R01 NS121298","MR/S005021/1","P50 HD105354","R01 GM142143"],"pubmed_authors":["Yang H","Lee S","Houlden H","Ignatius E","Buhas D","Pittman AM","Karimiani EG","Badv RS","Chilian M","Kose M","Toosi MB","Ganetzky RD","Maroofian R","Whittle EF","Torbati PN","Progri H","Rahman S","Carroll CJ","Jamshidi Y","Shelihan I","Elloumi HZ","Yoon WH"],"additional_accession":[]},"is_claimable":false,"name":"Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities.","description":"<h4>Purpose</h4>This study aimed to establish the genetic cause of a novel autosomal recessive neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities.<h4>Methods</h4>We performed a detailed clinical characterization of 4 unrelated individuals from consanguineous families with a neurodevelopmental disorder. We used exome sequencing or targeted-exome sequencing, cosegregation, in silico protein modeling, and functional analyses of variants in HEK293 cells and Drosophila melanogaster, as well as in proband-derived fibroblast cells.<h4>Results</h4>In the 4 individuals, we identified 3 novel homozygous variants in oxoglutarate dehydrogenase (OGDH) (NM_002541.3), which encodes a subunit of the tricarboxylic acid cycle enzyme α-keto","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Feb","modification":"2026-05-28T11:51:29.441Z","creation":"2025-04-07T03:19:43.419Z"},"accession":"S-EPMC9905285","cross_references":{"pubmed":["36520152"],"doi":["10.1016/j.gim.2022.11.001"]}}