Katelin M Allan, Miro A Astore, Egi Kardia, Sharon L Wong, Laura K Fawcett, Jessica L Bell, Simone Visser, Po-Chia Chen, Renate Griffith, Adam Jaffe, Sheila Sivam, Orazio Vittorio, Serdar Kuyucak, Shafagh A Waters
Background: Cystic fibrosis (CF) is caused by a wide spectrum of mutations in the CF transmembrane conductance regulator ( CFTR ) gene, with some leading to non-classical clinical presentations. We present an integrated in vivo, in silico and in vitro investigation of an individual with CF carrying the rare Q1291H -CFTR allele and the common F508del allele. At age 56 years, the participant had obstructive lung disease and bronchiectasis, qualifying for Elexacaftor/Tezacaftor/Ivacaftor (ETI) CFTR modulator treatment due to their F508del allele...
2023: Frontiers in Molecular Biosciences