Phenotypic expression of the p.Leu1077Pro CFTR mutation in Sicilian cystic fibrosis patients.

ABSTRACT:

Background

The p.Leu1077Pro CFTR mutation was firstly described in 1992 as a mild allele that confers a pancreatic sufficiency phenotype but the information collected in database CFTR2 lead to consider p.Leu1077Pro as a severe CF mutation. Although it is typical of Southern Italy, p.Leu1077Pro is not included in the mutation panel firstly tested in individuals originated from this area. The aim of our study was to describe prevalence and clinical features in patients bearing this mutation followed in our Cystic Fibrosis Centre to demonstrate that this mutation should be included in the mutation panel firstly tested in patients originated from Southern Italy.

Findings

We reviewed data from a cohort of 111 cystic fibrosis patients. 4 patients who were heterozygous for the p.Le

SUBMITTER: Parisi GF 

PROVIDER: S-EPMC3828422 | biostudies-literature | 2013 Nov

REPOSITORIES: biostudies-literature