Neurofibromatosis type 1: from genotype to phenotype. Issue 8 (12th August 2012)

• Record Type: Journal Article
• Authors: Pasmant, Eric; Vidaud, Michel; Vidaud, Dominique; Wolkenstein, Pierre
• Is Part Of: Journal of medical genetics. Volume 49:Issue 8(2012)
• Page Start: 483
• Page End: 489
• Publication Date: 2012-08-12
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmedgenet-2012-100978
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : 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.