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Mutation p997F
- Question
- My wife is pregnant. After getting tested for CF mutations she was found to carry the DF508 mutation. I was checked as well, for 99.6% of pathogenic mutations, without tracing any. However, in the results it is written in small print that the investigated sample is heterozygote for the p997F(c.2991G>C, rs1800111) mutation, which is characterized as non pathogenic in the CFTR2 database.
My question is what, if any, are the possible consequences for the child.
- Answer
- Dear friend,
The mutation p997F(c.2991G>C, rs1800111), in a total of 110 chromosomes where it has been detected, has been recorded as non pathological.
The chances for the fetus are as follows:
25% to carry none of the above mutations
25% to carry the DF508 mutation
25% to carry the p997F mutation
25% to carry both mutations (DF508 and p997F).
In only the last case, as a child, or young adult, there will be no problems, except possibly a raised IRT value during the neonatal screening, without any clinical symptoms (Salinas 2015). During the adult life there is a possibility for CFTR related disease. During the middle age there may present nasal polyps, pancreatitis, diffuse bronchiectasis and, if the person is male, congenital bilateral absence of vas deferens. Personally, I do not worry about your case. I am at your disposal for any other information you may need.
Yours friendly,
Dr. Stavros Doudounakis
- 09.09.2018