biostudies-literatureMarinella GEuropean Reference Network (ERN)TelethonTuscany regionthe Italian Ministry of Health—Current research IRCCS Cà Granda Ospedale Maggiore PoliclinicoRicerca corrente 202214567https://www.ebi.ac.uk/biostudies/studies/S-EPMC9735635biostudies-literatureUnknown23(23)<h4>Objective</h4>To define the prevalence of variants in collagen VI genes through a next-generation sequencing (NGS) approach in undiagnosed patients with suspected neuromuscular disease and to propose a diagnostic flowchart to assess the real pathogenicity of those variants.<h4>Methods</h4>In the past five years, we have collected clinical and molecular information on 512 patients with neuromuscular symptoms referred to our center. To pinpoint variants in COLVI genes and corroborate their real pathogenicity, we sketched a multistep flowchart, taking into consideration the bioinformatic weight of the gene variants, their correlation with clinical manifestations and possible effects on protein stability and expression.<h4>Results</h4>In Step I, we identified variants in COLVI-related geneInternational journal of molecular sciencesA Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.PMC9735635GSP18002Buchignani BMalandrini ASantorelli FMRodolico CFilosto MAstrea GGiannini FGallone SGalatolo DMoggio MMaioli MASperti MMari FSiciliano GBattini RMata SMelani FPasquariello RRubegni ATicci CDoccini SMassa RRicci GLopergolo DRicci FMagri FCassandrini DMongini TEPegoraro EMarinella GMandich PTonin PfalseA Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.<h4>Objective</h4>To define the prevalence of variants in collagen VI genes through a next-generation sequencing (NGS) approach in undiagnosed patients with suspected neuromuscular disease and to propose a diagnostic flowchart to assess the real pathogenicity of those variants.<h4>Methods</h4>In the past five years, we have collected clinical and molecular information on 512 patients with neuromuscular symptoms referred to our center. To pinpoint variants in COLVI genes and corroborate their real pathogenicity, we sketched a multistep flowchart, taking into consideration the bioinformatic weight of the gene variants, their correlation with clinical manifestations and possible effects on protein stability and expression.<h4>Results</h4>In Step I, we identified variants in COLVI-related gene2022-01-01T00:00:00Z2022 Nov2026-04-08T11:59:11.614Z2024-12-04T03:10:56.054ZS-EPMC97356353649889810.3390/ijms232314567