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

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

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

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

Afiliación

Hinzpeter A; Institut Necker Enfants MaladesInserm U1151 and Université Paris Descartes Paris France.
Reboul MP; Inserm U955 and Université Paris-Est Créteil France.
Callebaut I; CHU de Bordeaux Service de Génétique Médicale Bordeaux France.
Zordan C; Département de Biologie Structurale CNRS UMR 7590 and Universités Paris 6 et Paris 7 Paris France.
Costes B; CHU de Bordeaux Service de Pédiatrie Médicale Bordeaux France.
Guichoux J; Inserm U955 and Université Paris-Est Créteil France.
Iron A; CHU de Bordeaux Service de Pédiatrie Médicale Bordeaux France.
Lacombe D; CHU de Bordeaux Service de Génétique Médicale Bordeaux France.
Martin N; CHU de Bordeaux Service de Génétique Médicale Bordeaux France.
Arveiler B; Inserm, U1211 and Université de Bordeaux Bordeaux France.
Fanen P; Inserm U955 and Université Paris-Est Créteil France.
Fergelot P; CHU de Bordeaux Service de Génétique Médicale Bordeaux France.
Girodon E; Inserm, U1211 and Université de Bordeaux Bordeaux France.

Clin Case Rep ; 5(5): 658-663, 2017 05.

Article en En | MEDLINE | ID: mdl-28469871

RESUMEN

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.

Palabras clave

CFTR; cystic fibrosis; functional studies; genotypephenotype correlation; p.Cys1355Phe

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Clin Case Rep Año: 2017 Tipo del documento: Article