Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico tools.

摘要: Cystic fibrosis (CF) is caused by ~300 pathogenic CFTR variants. The heterogeneity of which, challenges molecular diagnosis and precision medicine approaches in CF. Our objective was to identify variants through high-throughput sequencing (HTS) predict the pathogenicity novel 8 silico tools. Two guidelines were followed deduce pathogenicity. A total 169 CF patients had genomic DNA submitted a Targeted Gene Sequencing we identified 63 (three three variants). most frequent alleles were: F508del (n = 192), G542* (n = 26), N1303K (n = 11), R1162* R334W (n = 9). screened classified as follows: 41 – [classified (I) n = 23, (II) n = 6, (III) n = 1, (IV) (IV/V) n = 1 (VI) n = 4]; 14 uncertain significance; seven To suggested classification 6b-16 exon duplication, G646* 3557delA Class I. There concordance among predictors likely for L935Q, cDNA.5808T>A I1427I. Also, Y325F presented two discordant results predictors. HTS analysis can will open door integration into routine clinical practice near future.