biostudies-literatureUnknown14Rossi CBackground: 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 CHD7 gene; however, variants are distributed throughout the gene and most cases are due to de novo mutations. Often, assessing the pathogenetic effect of a variant can be challenging, requiring the design of a unique assay for each specific case. Method: Here we describe a new CHD7 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. Results: The experimental approach pinpoints the pathogenetic effect of the varianFrontiers in genetics1082100https://www.ebi.ac.uk/biostudies/studies/S-EPMC9947648biostudies-literatureCase report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome.PMC9947648Evangelisti CFerrari SToydemir RMPanza ERamadan SRossi CAccadia MfalseCase report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome.Background: 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 CHD7 gene; however, variants are distributed throughout the gene and most cases are due to de novo mutations. Often, assessing the pathogenetic effect of a variant can be challenging, requiring the design of a unique assay for each specific case. Method: Here we describe a new CHD7 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. Results: The experimental approach pinpoints the pathogenetic effect of the varian2023-01-01T00:00:00Z20232026-05-28T16:56:47.304Z2025-04-05T23:31:10.877ZS-EPMC99476483684540210.3389/fgene.2023.1082100