Background. CFTR gene sequencing enhances the detection rate of molecular analysis but it frequently identifies mutations of uncertain significance for which it is difficult to define the pathogenic role without complex functional studies that require in vitro expression of the mutation.
Hypothesis and objectives. Set up and validate the sampling, culture and analysis of nasal epithelial cells using a series of techniques to study the effect of mutations in a novel “ex-vivo” model specifically obtained from the patient bearing the novel mutation.