Clinical outcomes of a large cohort of individuals with the F508del/5T;TG12 CFTR genotype

Cystic fibrosis (CF) is the most common life-limiting autosomal recessive inherited disorder caused by variants in the CF transmembrane conductance regulator (CFTR) gene [1]. To date, 382 CFTR variants are known to cause CF amongst the 466 reported in the CFTR2 database (https://cftr2.org/), although only the functional consequences for some have been defined. These variants can be categorized into CF-causing variants, variants with varying clinical consequences, non-CF-causing variants, and variants of unknown significance [1].

Source: Journal of Cystic Fibrosis - May 4, 2022 Category: Respiratory Medicine Authors: Antonella Tosco, Alice Castaldo, Carla Colombo, Laura Claut, Vincenzo Carnovale, Paola Iacotucci, Marco Lucarelli, Giuseppe Cimino, Benedetta Fabrizzi, Nicole Caporelli, Fabio Majo, Fabiana Ciciriello, Rita Padoan, Piercarlo Poli, Giovanni Taccetti, Claud Tags: Original Article Source Type: research