Referenced in: none

Automatically associated channels: Kir2.3

Title: Cystic fibrosis genetic counseling difficulties due to the identification of novel mutations in the CFTR gene.

Authors: Myrto Poulou, Irini Fylaktou, Maria Fotoulaki, Emmanuel Kanavakis, Maria Tzetis

Journal, date & volume: J. Cyst. Fibros., 2012 Jul , 11, 344-8

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/22326559

Abstract
The Cystic Fibrosis database includes amongst the 1893 gene mutations and polymorphisms a lot of missense mutations, the disease status of which still remains unproven. In populations with high rates of CFTR mutation heterogeneity, molecular diagnosis is difficult often causing counseling difficulties especially in cases of rare and/or novel mutations.Approaches to counseling in cases of novel variants.Thirty-seven novel variants (4 synonymous, 24 missense, 2 frameshift and 10 intronic substitutions) were identified and evaluated with the help of in silico tools.In a diagnostic environment the answers have to be given within a specific timeframe, the in silico tools in combination with the phenotype offer some help but their diagnostic value is limited and cannot be used in isolation for the determination of the severity of the mutation.