title: [From gene to disease; neurofibromatosis type 1].
abstract: Neurofibromatosis type 1 (NF1) is an autosomal dominant disease characterised by café-au-lait spots, freckling in the axillary or inguinal region, dermal and plexiform neurofibromas and Lisch nodules. Complications are severe in one third of patients, and the clinical variability is pronounced, even within families. The NF1 gene has been localised to chromosome 17q11.2 and encodes the protein neurofibromin. The gene is proposed to be a tumour suppressor gene. Inactivation of neurofibromin leads to a disruption in cell growth regulation. Mutation analysis is possible but laborious, and therefore NF1 is generally a clinical diagnosis based on diagnostic criteria.
authors.affiliation: Erasmus Medisch Centrum-Sophia Kinderziekenhuis, Postbus 2060, 3000 CB Rotterdam. degoede@alkg.azr.nl
authors.forename: A
authors.initials: A
authors.lastname: de Goede-Bolder
authors.forename: M H
authors.initials: MH
authors.lastname: Cnossen
authors.forename: D
authors.initials: D
authors.lastname: Dooijes
authors.forename: A M
authors.initials: AM
authors.lastname: van den Ouweland
authors.forename: M F
authors.initials: MF
authors.lastname: Niermeijer
mesh_terms: D002648:Child; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D016514:Genes, Neurofibromatosis 1 / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D005838:Genotype; D006801:Humans; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D009456:Neurofibromatosis 1 / Q000175:diagnosis* / Q000235:genetics*; D025542:Neurofibromin 1; D010641:Phenotype; D012306:Risk
chemical_list: D009419:Nerve Tissue Proteins; D025542:Neurofibromin 1