genes

Question

Hello,
What kind of symptoms are associated with these two mutations: delta F508 and N1303K?
Thank you very much to enlighten me.

Answer

Hello,
121 patients with these 2 mutations are reported in the 2008 report of the French registry of cystic fibrosis: www.registredelamuco.org
The F508del mutation or deltaF508 is the most common, it exists in the homozygous (two copies) in about 44% of patients and heterozygous (with another mutation) in 37% in France. This is a class 2 mutation, meaning that the defective protein is synthesized in the cell nucleus but is destroyed before reaching the membrane, where it must play its role of chloride channel.
For the N1303K mutation, also called c.3909C> G, it concerns fewer than 150 patients or about 3% of the French population of patients with cystic fibrosis. It is also a class 2 mutation. The combination of the two mutations thus generally gives a classic picture, with a condition that can affect both the respiratory system and digestive system.

You will find the answer to a question on the details related to the genotype and the "phenotype"
ecorn-cf.eu/index.php?id=65&L=0&tx_expertadvice_pi1[showitem]=1366&tx_expertadvice_pi1[search]=


I hope that answers your question
best regards
Dr Sophie Ravilly

20.09.2011