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

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

doi:10.1002/ccr3.760

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

Clin Case Rep. 2017 Mar 30;5(5):658-663. doi: 10.1002/ccr3.760. eCollection 2017 May.

Authors

Alexandre Hinzpeter^{1

2}, Marie-Pierre Reboul³, Isabelle Callebaut⁴, Cécile Zordan⁵, Bruno Costes², Julie Guichoux⁵, Albert Iron³, Didier Lacombe^{3

6}, Natacha Martin², Benoit Arveiler^{3

6}, Pascale Fanen^{2

7}, Patricia Fergelot^{3

6}, Emmanuelle Girodon^{7

8}

Affiliations

¹ Institut Necker Enfants MaladesInserm U1151 and Université Paris Descartes Paris France.
² Inserm U955 and Université Paris-Est Créteil France.
³ CHU de Bordeaux Service de Génétique Médicale Bordeaux France.
⁴ Département de Biologie Structurale CNRS UMR 7590 and Universités Paris 6 et Paris 7 Paris France.
⁵ CHU de Bordeaux Service de Pédiatrie Médicale Bordeaux France.
⁶ Inserm, U1211 and Université de Bordeaux Bordeaux France.
⁷ Département de Génétique Hôpital Henri Mondor, AP-HP Créteil France.
⁸ Laboratoire de Génétique et Biologie Moléculaires Hôpital Cochin, AP-HP Paris France.

Abstract

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: CFTR; cystic fibrosis; functional studies; genotype–phenotype correlation; p.Cys1355Phe.

Publication types

Case Reports