title: [Molecular analysis of two pediatric cases with sporadic neurofibromatosis type 1].
abstract: OBJECTIVE
  To report on two children manifesting multiple cafe-au-lait spots suspected as neurofibromatosis type 1, and perform NF1 gene mutation analysis.
  
  
  METHODS
  Blood samples were collected from the 2 children, their unaffected parents and 100 normal controls. The entire coding region of the NF1 gene was amplified by PCR and subjected to direct sequencing.
  
  
  RESULTS
  In patient 1, a novel frameshift mutation c.1948delT (p.Leu650TyrfsX38) was identified in exon 12 of the NF1 gene. And in patient 2, a previously reported nonsense mutation c.541C>T (p.Gln181X) was revealed in exon 4b. The same mutations were not detected in their unaffected parents or 100 normal controls.
  
  
  CONCLUSIONS
  The two patients were diagnosed with neurofibromatosis type 1 by molecular genetic testing. The pathogenic mutations were c.1948delT and c.541C>T, respectively.
authors.affiliation: Department of Dermatology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China. dermatology.yao@sohu.com; aypyslm@163.com.
authors.forename: Jia
authors.initials: J
authors.lastname: Zhang
authors.forename: Ming
authors.initials: M
authors.lastname: Li
authors.forename: Zhirong
authors.initials: Z
authors.lastname: Yao
mesh_terms: D000328:Adult; D001483:Base Sequence; D005091:Exons; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009456:Neurofibromatosis 1 / Q000235:genetics*; D025542:Neurofibromin 1 / Q000235:genetics*; D017354:Point Mutation
chemical_list: D025542:Neurofibromin 1