title: A novel NF1 mutation  in a Chinese patient with giant café-au-lait macule in neurofibromatosis type 1  associated with a malignant peripheral nerve sheath tumor and bone abnormality.
abstract: Neurofibromatosis  type 1 (NF1; OMIM#162200) is a common neurocutaneous disorder that is  characterized by multiple café-au-lait, skinfold freckling, Lisch nodules, and  neurofibromas. Mutations in the NF1 gene, which encodes the  neurofibromin protein, have been identified as  the pathogenic gene of NF1. In this study, we present a clinical and molecular  study of a Chinese patient with giant café-au-lait in NF1. The patient showed  >6 café-au-lait spots on the body, axillary freckling, and multiple  subcutaneous neurofibromas. He also had a malignant  peripheral nerve sheath tumor and bone abnormalities. The germline mutational  analysis of the NF1 gene revealed a novel missense mutation in exon 13.  It is a novel heterozygous nucleotide G>A transition at position 2241 of the NF1 gene. We found no mutation in malignant peripheral nerve sheath  tumor DNA from this patient. This expands the database for NF1 gene  mutations in NF1. Its absence in the normal chromosomes suggests that it is  responsible for the NF1 phenotype. To our knowledge, this is the first  case of giant café-au-lait macule in NF1 associated with a malignant peripheral  nerve sheath tumor and bone abnormality.
authors.affiliation: Department of General Surgery, Zhong Shan Hospital, Fu Dan University, Shanghai, China.
authors.forename: H-X
authors.initials: HX
authors.lastname: Tong
authors.forename: M
authors.initials: M
authors.lastname: Li
authors.forename: Y
authors.initials: Y
authors.lastname: Zhang
authors.forename: J
authors.initials: J
authors.lastname: Zhu
authors.forename: W-Q
authors.initials: WQ
authors.lastname: Lu
mesh_terms: D000293:Adolescent; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D001842:Bone and Bones / Q000002:abnormalities*; D019080:Cafe-au-Lait Spots / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D004252:DNA Mutational Analysis; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D018317:Nerve Sheath Neoplasms / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D009456:Neurofibromatosis 1 / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D025542:Neurofibromin 1 / Q000737:chemistry / Q000235:genetics*; D011860:Radiography, Abdominal; D014057:Tomography, X-Ray Computed
chemical_list: D025542:Neurofibromin 1