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Mutation 2711delT
- Question
- Hello,
I would like to know more about the homozygous mutation 2711delT. Is it a mutation-stop, are there any other people known with this case?
Thank you very much for your Response.
- Answer
- Hello,
The 2711delT mutation is a mutation that causes a shift in the reading frame of the CFTR gene (frameshift) resulting in a stop codon and thus a premature termination of the synthesis of the CFTR protein. It is indeed a stop mutation (class I).
This mutation is very rare. It is found :
- in 6 patients in the Database Muco - France, none patient however homozygous for this mutation.
- In 18 patients in the CFTR2 Data Base (Johns Hopkins Hospital, USA) where it is noted as a CF-causing mutation with pancreatic insufficiency when associated with another causing mutation.
However, the evolution of each patient being unique and depending on many genetic and environmental factors those data should be generalized cautionsly.
Gilles Rault, MD,
Roscoff CF Center, France
With the kind contribution
Marie- Pierre AUDREZET , PhD
Molecular Genetics , University Hospital of Brest
- 30.04.2014
