{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Maia N"],"funding":["National Eye Institute","NEI NIH HHS","Foundation for Science and Technology (FCT)","NHGRI NIH HHS","Broad Institute","National Human Genome Research Institute"],"pagination":["135-143"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10092556"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["191(1)"],"pubmed_abstract":["We describe the phenotype of 22 male patients (20 probands) carrying a hemizygous missense variant in MED12. The phenotypic spectrum is very broad ranging from nonspecific intellectual disability (ID) to the three well-known syndromes: Opitz-Kaveggia syndrome, Lujan-Fryns syndrome, or Ohdo syndrome. The identified variants were randomly distributed throughout the gene (p = 0.993, χ<sup>2</sup> test), but mostly outside the functional domains (p = 0.004; χ<sup>2</sup> test). Statistical analyses did not show a correlation between the MED12-related phenotypes and the locations of the variants (p = 0.295; Pearson correlation), nor the protein domain involved (p = 0.422; Pearson correlation). In conclusion, establishing a genotype-phenotype correlation in MED12-related diseases remains challen"],"journal":["American journal of medical genetics. Part A"],"pubmed_title":["Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes."],"pmcid":["PMC10092556"],"funding_grant_id":["UIDB/00215/2020 UIDP/00215/2020 LA/P/0064/2020","R01 HG009141","UM1 HG008900"],"pubmed_authors":["Santos R","Terhal P","Ibarluzea N","Kleefstra T","Yeh RC","Koboldt DC","Valenzuela I","Karteszi J","Marcelis CLM","Mori M","Gabau Vila E","Soares G","Jorge P","Maia N","Marques I","Elting MW","Neil JE","Cueto-Gonzalez AM","Misra-Isrie M","Csaszar A","Bessenyei B","Guitart M","Keski-Filppula R","Lasa-Aranzasti A","Abu-Libde B","Chhouk BH","de Brouwer APM","van Hagen JM","Hickey S","Lehman A","van Bokhoven H"],"additional_accession":[]},"is_claimable":false,"name":"Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.","description":"We describe the phenotype of 22 male patients (20 probands) carrying a hemizygous missense variant in MED12. The phenotypic spectrum is very broad ranging from nonspecific intellectual disability (ID) to the three well-known syndromes: Opitz-Kaveggia syndrome, Lujan-Fryns syndrome, or Ohdo syndrome. The identified variants were randomly distributed throughout the gene (p = 0.993, χ<sup>2</sup> test), but mostly outside the functional domains (p = 0.004; χ<sup>2</sup> test). Statistical analyses did not show a correlation between the MED12-related phenotypes and the locations of the variants (p = 0.295; Pearson correlation), nor the protein domain involved (p = 0.422; Pearson correlation). In conclusion, establishing a genotype-phenotype correlation in MED12-related diseases remains challen","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Jan","modification":"2026-04-08T14:04:13.67Z","creation":"2025-04-07T05:08:03.525Z"},"accession":"S-EPMC10092556","cross_references":{"pubmed":["36271811"],"doi":["10.1002/ajmg.a.63004"]}}