{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Jeffries L"],"funding":["Intramural NIH HHS","NCATS NIH HHS","NICHD NIH HHS","Cancer Research UK","Epilepsy Society","NIH","Hartwell Foundation","Medical Research Council","National Institute for Health Research (NIHR)","NHGRI NIH HHS","Horizon 2020","NINDS NIH HHS","Wellcome Trust","NIH HHS"],"pagination":["101023"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10932913"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["26(2)"],"pubmed_abstract":["<h4>Purpose</h4>We sought to delineate a multisystem disorder caused by recessive cysteine-rich with epidermal growth factor-like domains 1 (CRELD1) gene variants.<h4>Methods</h4>The impact of CRELD1 variants was characterized through an international collaboration utilizing next-generation DNA sequencing, gene knockdown, and protein overexpression in Xenopus tropicalis, and in vitro analysis of patient immune cells.<h4>Results</h4>Biallelic variants in CRELD1 were found in 18 participants from 14 families. Affected individuals displayed an array of phenotypes involving developmental delay, early-onset epilepsy, and hypotonia, with about half demonstrating cardiac arrhythmias and some experiencing recurrent infections. Most harbored a frameshift in trans with a missense allele, with 1 recu"],"journal":["Genetics in medicine : official journal of the American College of Medical Genetics"],"pubmed_title":["Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections."],"pmcid":["PMC10932913"],"funding_grant_id":["MR/M009203/1","S10 OD030363","U24 NS120854","MC_PC_14089","U54 NS108874","K02 NS112600","ACF-2022-06-011","NF-SI-0617-10154","U01 NS134356","U54 HD086984","UL1 TR001878","R01 NS131512","MC_EX_MR/M009203/1","NF-SI-0512-10113","RP-2016-07-011","R01 HG009141","R01 HD102186","UM1 HG008900","R01 NS118522"],"pubmed_authors":["McNerlan S","Keelagher R","Cole FS","Swale A","Douglas A","MaleadyCrowe F","Gardiner C","Borras S","Wener M","Novacic D","Malicdan MCV","Lincoln SA","Zwolinski S","Brewer C","Paterson J","Eason J","Carpier JM","Woods G","Tobias E","Walker M","Clowes V","Jewell R","Temple IK","Bennet J","Bonner 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cells.<h4>Results</h4>Biallelic variants in CRELD1 were found in 18 participants from 14 families. Affected individuals displayed an array of phenotypes involving developmental delay, early-onset epilepsy, and hypotonia, with about half demonstrating cardiac arrhythmias and some experiencing recurrent infections. Most harbored a frameshift in trans with a missense allele, with 1 recu","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Feb","modification":"2026-06-01T05:09:00.146Z","creation":"2025-04-05T10:19:42.977Z"},"accession":"S-EPMC10932913","cross_references":{"pubmed":["37947183"],"doi":["10.1016/j.gim.2023.101023"]}}