Genotype F508del / G85E

Question

Please, I would like to get general information about the phenotype associated with the mutations F508del and G85E.
Thanks

Answer

Hello,
The CFTR2 database (Johns Hopkins Hospital, Baltimore, MD, USA) reports data from 301 patients with the G85E mutation. Given the clinical information (phenotype) for these patients, it states it is a "CF-causing mutation" say a mutation which causes CF when combined with another CF-causing mutation: so is the F508del mutation associated with G85E in 176 patients of the database (genotype G85E / F508del).
Available clinical data of these 176 patients (sweat test results, frequency of pancreatic insufficiency, values of FEV1 and Pseudomonas aeruginosa infection rate) are very similar to those of CF patients with 2 CF-causing mutations and at least one is the F508del (the most common mutation found in approximately two thirds of CF patients).
However, keep in mind that the evolution of the disease depends on many factors, genetic and environmental. the sole genotype can not allow to predict the evolution of the disease in a given individual.
You can access the site CFTR2 (in English) by clicking on the following link :

cftr2.org/mutation.php?view=general&mutation_id=15


Hope that answers your question.
Cordially.
Gilles RAULT, MD
CF Expert Center, Nantes-Roscoff, France

30.04.2014