Cystic fibrosis genetic counseling difficulties due to the identification of novel mutations in the CFTR gene.
BACKGROUND
The Cystic Fibrosis database includes amongst the 1893 gene mutations and polymorphisms a lot of missense mutations, the disease status of which still remains unproven. In populations with high rates of CFTR mutation heterogeneity, molecular diagnosis is difficult often causing counseling difficulties especially in cases of rare and/or novel mutations.


METHODS
Approaches to counseling in cases of novel variants.


RESULTS
Thirty-seven novel variants (4 synonymous, 24 missense, 2 frameshift and 10 intronic substitutions) were identified and evaluated with the help of in silico tools.


CONCLUSIONS
In a diagnostic environment the answers have to be given within a specific timeframe, the in silico tools in combination with the phenotype offer some help but their diagnostic value is limited and cannot be used in isolation for the determination of the severity of the mutation.
Department of Medical Genetics, Medical School, University of Athens, Greece.
Myrto
M
Poulou
Irini
I
Fylaktou
Maria
M
Fotoulaki
Emmanuel
E
Kanavakis
Maria
M
Tzetis
D000328:Adult; D002648:Child; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D030541:Databases, Genetic; D005260:Female; D016368:Frameshift Mutation; D005817:Genetic Counseling / Q000379:methods* / Q000592:standards; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator