title: A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype.
abstract: OBJECTIVE
  Neurofibromatosis-Noonan syndrome is a rare autosomal dominant disorder which combines neurofibromatosis type 1 (NF1) features with Noonan syndrome. NF1 gene mutations are reported in the majority of these patients.
  
  
  METHODS
  Sequence analysis of the established genes for Noonan syndrome revealed no mutation; a heterozygous NF1 point mutation c.7549C>T in exon 51, creating a premature stop codon (p.R2517X), had been demonstrated.
  
  
  RESULTS
  Neurofibromatosis-Noonan syndrome recently has been considered a subtype of NF1 and caused by different NF1 mutations.
  
  
  CONCLUSIONS
  We report the case of a 14-year-old boy with neurofibromatosis type 1 with Noonan-like features, who complained of headache with triventricular hydrocephaly and a heterozygous NF1 point mutation c.7549C>T in exon 51.
authors.affiliation: Department of Pediatric Neurology, Osmangazi University Medical Faculty, Eskisehir, Turkey. sevgifahri@yahoo.com
authors.forename: Sevgi
authors.initials: S
authors.lastname: Yimenicioğlu
authors.forename: Ayten
authors.initials: A
authors.lastname: Yakut
authors.forename: Kadri
authors.initials: K
authors.lastname: Karaer
authors.forename: Martin
authors.initials: M
authors.lastname: Zenker
authors.forename: Arzu
authors.initials: A
authors.lastname: Ekici
authors.forename: Kürşat Bora
authors.initials: KB
authors.lastname: Carman
mesh_terms: D000293:Adolescent; D001842:Bone and Bones / Q000000981:diagnostic imaging; D003062:Codon / Q000235:genetics; D018389:Codon, Nonsense / Q000235:genetics* / Q000502:physiology; D005091:Exons / Q000235:genetics; D016514:Genes, Neurofibromatosis 1 / Q000502:physiology*; D006257:Head / Q000033:anatomy & histology; D006261:Headache / Q000209:etiology; D006801:Humans; D006849:Hydrocephalus / Q000473:pathology; D008297:Male; D009325:Nausea / Q000209:etiology; D009456:Neurofibromatosis 1 / Q000000981:diagnostic imaging / Q000235:genetics*; D009634:Noonan Syndrome / Q000000981:diagnostic imaging / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics / Q000502:physiology; D016133:Polymerase Chain Reaction; D011859:Radiography; D014839:Vomiting / Q000209:etiology
chemical_list: D003062:Codon; D018389:Codon, Nonsense