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.

Afiliação

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 em En | MEDLINE | ID: mdl-28469871

ABSTRACT

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.

Palavras-chave

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

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Texto completo: 1 Bases de dados: MEDLINE Idioma: En Revista: Clin Case Rep Ano de publicação: 2017 Tipo de documento: Article