title: Absence of exon 17 c.2970-2872delAAT mutation in Turkish NF1 patients with mild phenotype.
abstract: BACKGROUND
  Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by café-au-lait spots, neurofibromas, skinfold freckles, Lisch nodules, bone deformities, learning disabilities, and predisposition to neoplasms. It is caused by various mutations of the NF1 gene. Recently a 3-bp in-frame deletion in exon 17, c.2970-2972 delAAT mutation, has been associated with a milder phenotype of NF1 manifesting with pigmentary skin changes only.
  
  
  METHODS
  We therefore analyzed 35 NF1 patients without neurofibromas, learning problems, or bone lesions (19 familial, 16 sporadic, age 7-44 years) for exon 17 mutations by DNA sequencing.
  
  
  RESULTS
  We did not find the c.2970-2972 delAAT mutation in this group but identified two base changes in exon 17 (c.2989A>G and c.2894T>A), whether these two novel mutations are related to a mild phenotype remains to be confirmed in further studies. Our results suggest the reported phenotypic associations may not be valid for all populations.
authors: Department of Medical Biology, Faculty of Medicine, Hacettepe University, Ankara 06100, Turkey.
authors: Yunus Kasim
authors: YK
authors: Terzi
authors: Burcu
authors: B
authors: Sirin
authors: Esra
authors: E
authors: Serdaroglu
authors: Banu
authors: B
authors: Anlar
authors: Sabiha
authors: S
authors: Aysun
authors: Guzen
authors: G
authors: Hosgor
authors: Elif Acar
authors: EA
authors: Arslan
authors: Sukriye
authors: S
authors: Ayter
mesh_terms: D000293:Adolescent; D000328:Adult; D019080:Cafe-au-Lait Spots / Q000150:complications / Q000235:genetics; D002648:Child; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D009456:Neurofibromatosis 1 / Q000150:complications / Q000235:genetics*; D025542:Neurofibromin 1 / Q000235:genetics*; D014421:Turkey; D055815:Young Adult
chemical_list: D025542:Neurofibromin 1