Neurofibromatosis type 1: from genotype to phenotype.
Although neurofibromatosis 1 (NF1) is a common Mendelian disorder with autosomal-dominant inheritance, its expression is highly variable and unpredictable. Many NF1 patients have been genotyped but few allele-phenotype correlations have been identified. NF1 genotype-phenotype correlations are difficult to identify because of the complexity of the NF1 phenotype, its strong age dependency, the relatedness of many clinical features and the huge heterogeneity of pathogenic NF1 mutations. Some NF1 patients with a given NF1 mutation may develop very severe disease while others with the same mutation have only mild symptoms. This phenotypic variability may be due to both modifier genes and environmental factors. Recent targeted strategies have identified several interesting candidate modifier genes.
UMR745 INSERM, Université Paris Descartes, Sorbonne Paris Cité, Faculté des Sciences Pharmaceutiques et Biologiques, 4 avenue de l'Observatoire, Paris 75006, France. eric.pasmant@parisdescartes.fr
Eric
E
Pasmant
Michel
M
Vidaud
Dominique
D
Vidaud
Pierre
P
Wolkenstein
D000483:Alleles; D000818:Animals; D004195:Disease Models, Animal; D060045:Genes, Modifier; D056726:Genetic Association Studies; D018740:Genetic Heterogeneity; D005838:Genotype; D006801:Humans; D051379:Mice; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000235:genetics* / Q000473:pathology; D010641:Phenotype