The importance of functional tests to assess the effect of a new CFTR variant when genotype–phenotype correlation is not possible

Alexandre Hinzpeter,M.-P. Reboul,Isabelle Callebaut,Cécile Zordan,Bruno Costes,Julie Guichoux,Albert Iron,Didier Lacombe,Natacha Martin,Benoit Arveiler,Pascale Fanen,Patricia Fergelot,Emmanuelle Girodon

The importance of functional tests to assess the effect of a new CFTR variant when genotype–phenotype correlation is not possible

2017

Alexandre Hinzpeter
M.-P. Reboul
Isabelle Callebaut
Cécile Zordan
Bruno Costes
Julie Guichoux
Albert Iron
Didier Lacombe
Natacha Martin
Benoit Arveiler
Pascale Fanen
Patricia Fergelot
Emmanuelle Girodon

Key Clinical Message In vitro functional tests aimed to investigate CFTR dysfunction appear critical to help elucidate the functional impact of new variants of uncertain clinical significance and solve inconclusive cases, especially in early deceased newborns.

Keywords:

Cystic fibrosis
Pathology
Phenotype
Clinical significance
Genotype
Biology
functional impact
genotype phenotype
Correlation
Bioinformatics
Medicine
functional studies

Correction
Source
Cite
Save
Machine Reading By IdeaReader

References

Citations