{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Erkut E"],"funding":["Cancer Research UK","Azrieli Foundation","Medical Research Council","Universität Zürich","National Institute for Health and Care Research","Heart of England NHS Foundation Trust","Wellcome Trust","Canadian Institutes of Health Research"],"pagination":["2625-2642"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12808965"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["112(11)"],"pubmed_abstract":["Syndromic cardiac malformations can result in morbidity, yet their genetic etiology is only understood for a subset of individuals. Genome sequencing efforts in congenital anomaly cohorts may identify disease-associated variants in previously unrecognized genes. Through international matchmaking efforts, we identified eighteen individuals in total with de novo or loss-of-function variants in EIF3A (n = 4) or EIF3B (n = 14). The clinical phenotype varied but predominantly included cardiac defects, craniofacial dysmorphisms, mild developmental delays, and behavioral abnormalities. These genes encode core subunits of the eukaryotic initiation factor 3 (eIF3) complex, which plays a critical role in binding mRNA transcripts to the 40S ribosomal subunit during translation initiation. Both genes "],"journal":["American journal of human genetics"],"pubmed_title":["A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B."],"pmcid":["PMC12808965"],"funding_grant_id":["PJT 178155"],"pubmed_authors":["Lees H","Quelin C","Ranza E","Stuebben M","McDonald L","Jeeneea R","Koboldt DC","Dingmann B","Perrin L","Pingault V","Scott IC","Zanoni P","Schwartz MLB","Chen X","Kolokotronis K","Rauch A","Levy J","Kim RH","Kupper C","Kopps AM","Manshaei R","Leonard J","Gosselin R","Jobling RK","Littlejohn R","Dubourg C","Skraban C","Mayer D","Ding Q","Riedijk AS","Diderich KEM","Sousa S","Bedoukian EC","McLean SD","Blanc X","Escobar LF","Guillen Sacoto MJ","Pattani N","Rosmaninho-Salgado J","Moran OM","Schnurer MT","Somerville C","Conlin LK","Haag CD","Antonarakis SE","Cox H","Kenia P","Erkut E","Reichert SL","Herzig L","Elmslie F"],"additional_accession":[]},"is_claimable":false,"name":"A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.","description":"Syndromic cardiac malformations can result in morbidity, yet their genetic etiology is only understood for a subset of individuals. Genome sequencing efforts in congenital anomaly cohorts may identify disease-associated variants in previously unrecognized genes. Through international matchmaking efforts, we identified eighteen individuals in total with de novo or loss-of-function variants in EIF3A (n = 4) or EIF3B (n = 14). The clinical phenotype varied but predominantly included cardiac defects, craniofacial dysmorphisms, mild developmental delays, and behavioral abnormalities. These genes encode core subunits of the eukaryotic initiation factor 3 (eIF3) complex, which plays a critical role in binding mRNA transcripts to the 40S ribosomal subunit during translation initiation. Both genes ","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Nov","modification":"2026-07-16T06:47:19.411Z","creation":"2026-07-09T10:42:06.129Z"},"accession":"S-EPMC12808965","cross_references":{"pubmed":["41033306"],"doi":["10.1016/j.ajhg.2025.09.008"]}}