[Cystic fibrosis: relationship between genotype and phenotype].
Cystic fibrosis (CF) is one of the most common lethal autosomal recessive disease among the Caucasian population. It is caused by defects in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. More than 1000 different CF mutations have been described. This large heterogeneity of mutations could explain in part the great variability of clinical expression of the disease. However, the severity of the lung disease is very different among patients with similar CFTR genotype, even from the same family. These discrepancies in phenotypes within patients of the same genotype suggest the influence of nongenetic environmental factors and genetic modifiers outside the CF locus.
Bienvenu
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Laboratoire de biochimie et génétique moléculaire, hôpital Cochin-Saint-Vincent de Paul, AP-HP, 123, boulevard de Port-Royal, 75014 Paris, France. bienvenu@cochin.inserm.fr
D003550:Cystic Fibrosis / Q000235:genetics* / Q000473:pathology*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics* / Q000502:physiology*; D005838:Genotype; D006801:Humans; D010641:Phenotype
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator