Forgot your password?
Please enter your username or email address. Instructions for resetting the password will be immediately emailed to you.
Please note: While some information will still be current in a year, other information may already be out of date in three months time. If you are in any doubt, please feel free to ask.
information on the 2373del8 mutation
- Question
- Hello,
My son has 2 mutations: 2373del8 (c.2241_2248delGATACTGC) and F508del
He is pancreatic insufficient but his tests and growth show that he correctly absorb the lipids. He doesn’t take any pancreatic enzyme. He does not have any gut disorder.
Our CF center does not explain this particularity, could you tell me more about the first rare mutation (I don’t find any information on the database) ?
Thank you for your answer - Answer
- Hello,
I didn’t either found any information in the databases concerning the 2373 mutation. However, there is some information about the 2372del8 mutation. It corresponds to a deletion in the DNA sequence, which shifts the way the sequence is read, called a “frameshift mutation” by the specialists. This mutation is rare and, combined to the F508 mutation, may led to a clinical profile comparable to that of patients homozygous for the F508 mutation (F508/F508): a classical form.
However, besides CFTR gene mutations, other parameters can affect the development of the patients’ symptoms. Your child, for example, does not require any pancreatic enzyme to absorb the lipids despite a pancreatic insufficiency. Other factors, genetic and/or environmental, could possibly modulate his pancreatic insufficiency. Since several years, large studies are performed to found these genetic modifiers that are implicated in the severity of the several cystic fibrosis symptoms.
Please consult a geneticist, or a geneticist counsellor, who will be able, if you whish, to give you more details on this mutation.
Sincerely,
Harriet Corvol - 25.06.2012
