{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Sangermano R"],"funding":["NEI NIH HHS","Foundation Fighting Blindness (FFB)","U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI)","U.S. Department of Health & Human Services | NIH | National Eye Institute (NEI)","Agence Nationale de la Recherche (French National Research Agency)"],"pagination":["58"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11549414"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["9(1)"],"pubmed_abstract":["Inherited retinal degenerations are blinding genetic disorders characterized by high genetic and phenotypic heterogeneity. In this retrospective study, we describe sixteen families with early-onset non-syndromic retinal degenerations in which affected probands carried rare bi-allelic variants in CFAP410, a ciliary gene previously associated with recessive Jeune syndrome. We detected twelve variants, eight of which were novel, including c.373+91A>G, which led to aberrant splicing. To our knowledge this is the first likely pathogenic deep-intronic variant identified in this gene. Analysis of all reported and novel CFAP410 variants revealed no clear correlation between the severity of the CFAP410-associated phenotypes and the identified causal variants. This is supported by the fact that the "],"journal":["NPJ genomic medicine"],"pubmed_title":["Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration."],"pmcid":["PMC11549414"],"funding_grant_id":["R01EY012910","EGI-GE-1218-0753-UCSD","HG009141","ANR-10-LABX-65","ANR-11-IDEX-0004-0","R01 EY012910","R01 EY035717","P30 EY014104","R01EY026904","ANR-18-IAHU-0001","UM1HG008900"],"pubmed_authors":["Sahel JA","Audo I","Sangermano R","Mukai S","Place EM","Pierce EA","Bujakowska KM","O'Heir E","Zeitz C","Antonio A","Duncan JL","Condroyer C","Navarro J","Zanlonghi X","Han J","Price C","DiTroia S","Gupta P","Huckfeldt RM"],"additional_accession":[]},"is_claimable":false,"name":"Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.","description":"Inherited retinal degenerations are blinding genetic disorders characterized by high genetic and phenotypic heterogeneity. In this retrospective study, we describe sixteen families with early-onset non-syndromic retinal degenerations in which affected probands carried rare bi-allelic variants in CFAP410, a ciliary gene previously associated with recessive Jeune syndrome. We detected twelve variants, eight of which were novel, including c.373+91A>G, which led to aberrant splicing. To our knowledge this is the first likely pathogenic deep-intronic variant identified in this gene. Analysis of all reported and novel CFAP410 variants revealed no clear correlation between the severity of the CFAP410-associated phenotypes and the identified causal variants. This is supported by the fact that the ","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Nov","modification":"2026-06-01T12:48:55.745Z","creation":"2025-04-19T17:27:25.271Z"},"accession":"S-EPMC11549414","cross_references":{"pubmed":["39516462"],"doi":["10.1038/s41525-024-00439-3"]}}