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CF mutations

Vraag
My husband and I were checked for the largest possible percentage of CF mutations during our genetic screening. I was found to carry the C.3154T>G mutation, possibly pathogenic, and my husband the C.2620-15C>G mutation, which is labeled as of unknown clinical significance, or as a polymorphism. I would like to ask if our child will suffer from CF, if it carries both mutations, or if it will have an atypical CF (what does this mean?), or if it will be healthy.
Antwoord
Dear friend,
You were found to carry the G315T>G (F1052V) CF mutation, which is characterized by variant clinical significance, whereas your husband was found to carry the C2620-15>G CF mutation, which is of unknown clinical significance.
In the largest CFTR2 database, which is a reference system created by information about the clinical significance of every CF mutation recorded by national registries and by large CF centers, which has 89502 patients and information about more than 2000 CF mutations, the clinical significance of 374 mutations has been determined.
312 mutations cause CF.
36 mutations present with variant manifestation of the disease.
13 mutations do not cause CF.
13 mutations are of unkown clinical significance.

The mutations of the CFTR gene, in regard to clinical outcome, are classified in two large categories, those that cause CF and those that cause a CFTR related disorder.
A CFTR related disorder is a clinical entity that is linked to dysfunction of the protein of CF (CFTR), without fulfilling the diagnostic criteria for CF, so the clinical symptoms are milder.
The F1052V mutation has a variant clinical outcome. The C2620-15>G mutation is mentioned in
certain articles (El Seedy 2017, Behar 2017, Israel), without any clarifications about the clinical status of the CF patients and if they present a typical CF picture, or a CFTR related disorder picture.
So, dear friend, regarding your question about the clinical picture of a child that carries the F1052V and C2620-15>G mutations, unfortunately there is no information about this particular combination.
Based on the latest available data, a child being born with CF will have a life expectancy over 50 years in Great Britain, a value that is a lot higher if the child has a CFTR related disorder.
Yours friendly,
Dr. Stavros Doudounakis
11.05.2018