जीन प्रौद्योगिकी

अमूर्त

Atypical Cystic Fibrosis: Case Report

Domenico Dell’Edera1, Donatello Salvatore, Manuela Leo, Carmela Santacesaria, Arianna Allegretti and Annunziata Anna Epifania

Cystic Fibrosis is the most common autosomal recessive genetic disease in Caucasian population. Extending knowledge about the molecular pathology on the one hand allows better delineation of the mutations in the CFTR gene and the other to dramatically increase the predictive power of molecular testing. This study wants to underline that the identification of individuals with atypical cystic fibrosis can sometimes present particular difficulties of interpretation. On that ground, if there is a strong clinical suspicion, it is always advisable the biochemical study by performing the sweat test, followed by sequencing of the CFTR gene.