Laboratory reporting on the clinical spectrum of CFTR p.Arg117His: Still room for improvement

Cystic fibrosis (CF) is a common autosomal recessive disorder in Caucasian populations, caused by pathogenic variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Currently, more than 2000 CFTR variants have already been identified [1]. CFTR variant LRG_663t1: c.350G>A (p.Arg117His, traditional name: R117H) is a missense variant in exon 4, leading to conductance (class IV) as well as CFTR gating (class III) defects [2,3]. It has an estimated allele frequency of 0.3% in Caucasian populations [1].

Source: Journal of Cystic Fibrosis - June 2, 2020 Category: Respiratory Medicine Authors: Nele Laudus, Marie-Pierre Audr ézet, Emmanuelle Girodon, Michael A Morris, Dragica Radojkovic, Caroline Raynal, Manuela Seia, Alexandra Štambergová, Heike Torkler, Raina Yamamoto, Elisabeth M C Dequeker Source Type: research