{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Peron A"],"funding":["U.S. Department of Health & Human Services | NIH | National Cancer Institute (NCI)","NICHD NIH HHS","Telethon","The Francis Crick Institute","U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI)","NHGRI NIH HHS","NCI NIH HHS","Wellcome Trust"],"pagination":["312-324"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11893779"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["33(3)"],"pubmed_abstract":["An increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of manifestations and mutational spectrum is lacking. To address this, we performed detailed analysis of 42 individuals with BCL11A-related IDD (BCL11A-IDD, a.k.a. Dias-Logan syndrome) ascertained through an international collaborative network, and reviewed 35 additional previously reported patients. Analysis of 77 affected individuals identified 60 unique disease-causing variants (30 frameshift, 7 missense, 6 splice-site, 17 stop-gain) and 8 unique BCL11A microdeletions. We define the most prevalent features of BCL11A-IDD: IDD, postnatal-onset microcephaly, hypotonia, behavioral abnormalities, autism spectrum disorder, and persistence of "],"journal":["European journal of human genetics : EJHG"],"pubmed_title":["BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations."],"pmcid":["PMC11893779"],"funding_grant_id":["U54 HG006493","CC1061","CC2033","UM1;HG006493","209568/Z/17/Z","R24 HD000836","UM1 HG006493","U24 HG008956","GSP15001","R01 CA210561","R01CA210561"],"pubmed_authors":["University of Washington Center for Mendelian Genomics (UW-CMG)","Clayton-Smith J","Hsieh TC","Gradek GA","Dias C","McDonald K","Pfundt R","Accogli A","Maia S","Hanna S","Busk OL","Jones WD","Tvrdik T","Aldinger KA","Beleford D","Montgomery T","Kristiansen BE","Shears D","Openshaw AS","Haffner D","Wentzensen IM","Campeau PM","Person R","Bruel AL","Smith-Hicks C","Lynch SA","Dobyns WB","Slavotinek A","Viskochil D","Philippe C","Graul-Neumann L","Guillemot F","Parikh AS","Carlston C","Zollino M","Carmichael J","Andersen EF","Motter C","Palumbos JC","Telethon Undiagnosed Disease Program (TUDP)","de Vries BBA","Desai M","D'Arco F","Mao R","Faivre L","Low KJ","Kalinauskiene R","Chassevent A","Turner C","Scala M","Zweier C","Bradbury K","Weiss K","Bird LM","Haldipur P","Ferreira P","Melver C","Serey-Gaut M","Battini R","C4RCD Research Group","Perilla-Young Y","Au PYB","Bouman A","Morleo M","Suri M","Green MJ","Piard J","Capra V","Bamshad MJ","Kraus C","Ramsey K","Lespinasse J","Houge G","Powell CM","Peron A","Earl DL"],"additional_accession":[]},"is_claimable":false,"name":"BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.","description":"An increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of manifestations and mutational spectrum is lacking. To address this, we performed detailed analysis of 42 individuals with BCL11A-related IDD (BCL11A-IDD, a.k.a. Dias-Logan syndrome) ascertained through an international collaborative network, and reviewed 35 additional previously reported patients. Analysis of 77 affected individuals identified 60 unique disease-causing variants (30 frameshift, 7 missense, 6 splice-site, 17 stop-gain) and 8 unique BCL11A microdeletions. We define the most prevalent features of BCL11A-IDD: IDD, postnatal-onset microcephaly, hypotonia, behavioral abnormalities, autism spectrum disorder, and persistence of ","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Mar","modification":"2026-06-01T18:01:09.696Z","creation":"2025-04-04T00:12:16.184Z"},"accession":"S-EPMC11893779","cross_references":{"pubmed":["39448799"],"doi":["10.1038/s41431-024-01701-z"]}}