{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["14"],"submitter":["Rossi C"],"pubmed_abstract":["<b>Background:</b> Because CHARGE syndrome is characterized by high clinical variability, molecular confirmation of the clinical diagnosis is of pivotal importance. Most patients have a pathogenic variant in the <i>CHD7</i> gene; however, variants are distributed throughout the gene and most cases are due to <i>de novo</i> mutations. Often, assessing the pathogenetic effect of a variant can be challenging, requiring the design of a unique assay for each specific case. <b>Method:</b> Here we describe a new <i>CHD7</i> intronic variant, c.5607+17A>G, identified in two unrelated patients. In order to characterize the molecular effect of the variant, minigenes were constructed using exon trapping vectors. <b>Results:</b> The experimental approach pinpoints the pathogenetic effect of the varian"],"journal":["Frontiers in genetics"],"pagination":["1082100"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9947648"],"repository":["biostudies-literature"],"pubmed_title":["Case report: Functional characterization of a novel <i>CHD7</i> intronic variant in patients with CHARGE syndrome."],"pmcid":["PMC9947648"],"pubmed_authors":["Evangelisti C","Ferrari S","Toydemir RM","Panza E","Ramadan S","Rossi C","Accadia M"],"additional_accession":[]},"is_claimable":false,"name":"Case report: Functional characterization of a novel <i>CHD7</i> intronic variant in patients with CHARGE syndrome.","description":"<b>Background:</b> Because CHARGE syndrome is characterized by high clinical variability, molecular confirmation of the clinical diagnosis is of pivotal importance. Most patients have a pathogenic variant in the <i>CHD7</i> gene; however, variants are distributed throughout the gene and most cases are due to <i>de novo</i> mutations. Often, assessing the pathogenetic effect of a variant can be challenging, requiring the design of a unique assay for each specific case. <b>Method:</b> Here we describe a new <i>CHD7</i> intronic variant, c.5607+17A>G, identified in two unrelated patients. In order to characterize the molecular effect of the variant, minigenes were constructed using exon trapping vectors. <b>Results:</b> The experimental approach pinpoints the pathogenetic effect of the varian","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023","modification":"2026-05-28T16:56:47.304Z","creation":"2025-04-05T23:31:10.877Z"},"accession":"S-EPMC9947648","cross_references":{"pubmed":["36845402"],"doi":["10.3389/fgene.2023.1082100"]}}