R117P

Question

Can you give me more info on the mutation of my son: R117P
THANK YOU

Answer

Hello,
There really is very little information on this mutation, so it is not possible to be sure about its pathogenicity. This is a mutation called "missense" which was first described in 1994 (see ref) in a French patient of 17 years, with mild disease, but the second mutation is not known .

The absence of this mutation in the general population and bioinformatic predictions (provided by the specialized team of CFTR Genetics of Montpellier) would go in the direction of an impact on protein function, but it is unfortunately not possible to say whether this mutation is likely to lead to the development of a severe form.

We do not know how old is your son, but several clinical factors (pancreatic function, lung function at age 6) are factors that may be associated with prognosis. Regular monitoring in CRCM is another factor associated with better prognosis.

International collaborations enable the identification of data on rare mutations, and it is possible that in the near future, we have more information. Do not hesitate to ask the team regularly CRCM following your son.

Sincerely,

Dr. Sophie Ravilly with the help of Marie Des Georges and Corinne Thèze (Montpellier)

REFERENCES:
www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=90

cftr2.org

15.05.2012