Karina Kleinfelder, Elena Somenza, Alessia Farinazzo, Jessica Conti, Virginia Lotti, Roberta Valeria Latorre, Luca Rodella, Arianna Massella, Francesco Tomba, Marina Bertini, Claudio Sorio, Paola Melotti
An Italian, 46-year-old female patient carrying the complex allele p.[R74W;V201M;D1270N] in trans with CFTR dele22_24 was diagnosed at the Cystic Fibrosis (CF) Center of Verona as being affected by CF-pancreatic sufficient (CF-PS) in 2021. The variant V201M has unknown significance, while both of the other variants of this complex allele have variable clinical consequences, according to the CFTR2 database, with reported clinical benefits for treatment with ivacaftor + tezacaftor and ivacaftor + tezacaftor + elexacaftor in patients carrying the R74W-D1270N complex allele, which are currently approved (in USA, not yet in Italy)...
March 8, 2023: International Journal of Molecular Sciences