In vitro modulator responsiveness of 655 CFTR variants found in people with cystic fibrosis
Cystic fibrosis (CF) is a progressive autosomal recessive condition affecting over 40.000 people in the United Stated and over 100.000 people worldwide (Guo J+, 2022 [1]). CF is caused by specific variants1 of the CFTR gene that result, through various mechanisms, in a dysfunctional CFTR protein (Shteinberg M+, 2021 [3]). More than 4000 CFTR variants have been reported, including over 1000 exonic variants (www.genet.sickkids.on.ca, Ideozu ±, 2023 [4]), but not all cause disease. To date, 1654 variants have been reported in pwCF to the Clinical and Functional TRanslation of CFTR (CFTR2) project (https://cftr2.org).
Source: Journal of Cystic Fibrosis - Category: Respiratory Medicine Authors: Hermann Bihler, Andrey Sivachenko, Linda Millen, Priyanka Bhatt, Amita Thakerar Patel, Justin Chin, Violaine Bailey, Isaac Musisi, Andr é LaPan, Normand E. Allaire, Joshua Conte, Noah R. Simon, Amalia S. Magaret, Karen S. Raraigh, Garry R. Cutting, Willi Tags: Original Article Source Type: research