title: [Molecular genetic diagnosis of neurofibromatosis type I].
abstract: Type 1 neurofibromatosis is an autosomal dominant hamartosis, caused by mutations of the gene neurofibromin-1. The variable clinical phenotype is characterized by café-au-lait spots, benign neurofibromas, axillary, inguinal hyperpigmentations, iris hamartomas, skeletal deformities and risk of neurofibroma-development. Pathogenic variations of neurofibromin-1 arise as de novo mutations in approx. 50% of the cases.
  
  
  OBJECTIVE
  Molecular genetic testing of neurofibromin-1 gene has been performed in our department since 2008; the following report summarizes our experiences.
  
  
  METHODS
  40 patients, presenting symptoms of type 1 neurofibromatosis, were screened by sequencing or multiplex ligation-dependent probe amplification.
  
  
  RESULTS
  Pathogenic alterations were identified in 31 cases, 8 patients presented novel mutations. In 8 affected, no mutations were detected by sequencing; one of these patients had a deletion affecting the entire gene.
  
  
  CONCLUSIONS
  Sequencing of the neurofibromin-1 gene and screening for rearrangements are useful in identifying pathogenic alterations in most of the cases.
authors.affiliation: Pécsi Tudományegyetem, Általános Orvostudományi Kar Orvosi Genetikai Intézet Pécs Szigeti u. 12. 7624. noemi.polgar@aok.pte.hu
authors.forename: Noémi
authors.initials: N
authors.lastname: Polgár
authors.forename: Katalin
authors.initials: K
authors.lastname: Komlósi
authors.forename: Kinga
authors.initials: K
authors.lastname: Hadzsiev
authors.forename: Tamás
authors.initials: T
authors.lastname: Illés
authors.forename: Béla
authors.initials: B
authors.lastname: Melegh
mesh_terms: D000328:Adult; D000368:Aged; D018389:Codon, Nonsense; D005260:Female; D017353:Gene Deletion; D016514:Genes, Neurofibromatosis 1; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D016254:Mutagenesis, Insertional; D009154:Mutation; D020125:Mutation, Missense; D009456:Neurofibromatosis 1 / Q000175:diagnosis* / Q000235:genetics*; D025542:Neurofibromin 1 / Q000235:genetics*; D010375:Pedigree; D017422:Sequence Analysis, DNA
chemical_list: D018389:Codon, Nonsense; D025542:Neurofibromin 1