Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis

• Published in: Journal of human genetics Vol. 61; no. 12; pp. 977 - 984
• Main Authors: Straniero, Letizia, Soldà, Giulia, Costantino, Lucy, Seia, Manuela, Melotti, Paola, Colombo, Carla, Asselta, Rosanna, Duga, Stefano
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01.12.2016
• Subjects: Alleles; Cystic Fibrosis - diagnosis; Cystic Fibrosis - genetics; Cystic Fibrosis Transmembrane Conductance Regulator - genetics; Epithelial Sodium Channels - genetics; Female; Gene Order; Genotype; High-Throughput Nucleotide Sequencing; Humans; Introns; Male; Mutation; Reverse Transcriptase Polymerase Chain Reaction; RNA Splicing; Sequence Deletion; Transcription, Genetic

Despite extensive screening, 1-5% of cystic fibrosis (CF) patients lack a definite molecular diagnosis. Next-generation sequencing (NGS) is making affordable genetic testing based on the identification of variants in extended genomic regions. In this frame, we analyzed 23 CF patients and one carrier...