title: The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE.
abstract: BACKGROUND
  Germline heterozygous mutations in the tumor suppresser NF1 gene cause a cancer predisposition syndrome known as neurofibromatosis type 1 (NF1). This disease is one of the most common multisystem disorders with an estimated incidence of 1 in 3,000 to 1 in 4,000 births. Clinically, NF1 patients are prone to develop "café au lait" spots, neurofibromas, Lisch nodules, freckling of the axillary, or inguinal region and optic nerve gliomas.
  
  
  METHODS
  In the present study, we report clinical and molecular findings of five unrelated patients and seven cases from four families with NF1 from UAE. To reveal the genetic defects underlying NF1 in our cohort of patients, we screened the whole coding and splice site regions of the NF1 gene. In addition, MLPA or CGH array has been used to screen for structural variations including deletions, indels, and complex rearrangements.
  
  
  RESULTS
  This resulted in the identification of five distinct novel mutations and two previously reported ones. These variations included three missense and one nonsense mutations, one single base, one dinucleotide, and one large deletion.
  
  
  CONCLUSIONS
  Four mutations were inherited, and the remaining were absent from both parents and therefore are "de novo" mutations. This analysis represents the spectrum of NF1 mutations in UAE and supports the premise of absence of hotspot mutations in the NF1 gene. Moreover, no obvious genotype-phenotype correlations were observed in our patients.
authors.affiliation: Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates, salmabs@uaeu.ac.ae.
authors.forename: Salma
authors.initials: S
authors.lastname: Ben-Salem
authors.forename: Aisha M
authors.initials: AM
authors.lastname: Al-Shamsi
authors.forename: Bassam R
authors.initials: BR
authors.lastname: Ali
authors.forename: Lihadh
authors.initials: L
authors.lastname: Al-Gazali
mesh_terms: D055028:Comparative Genomic Hybridization; D004252:DNA Mutational Analysis; D005260:Female; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D008297:Male; D060885:Multiplex Polymerase Chain Reaction; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000235:genetics*; D010375:Pedigree; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014479:United Arab Emirates