title: A novel mutation in the NF1 gene in two siblings with neurofibromatosis type 1 and bilateral optic pathway glioma.
abstract: We present the clinical and ophthalmological findings, genetic analysis, and therapy of two siblings with NF1 and bilateral OPG. In genetic analysis, a heteroduplex profile was detected in exon 4b of the NF1 gene for the affected patients and mother. Sequencing of the DNA samples identified a C > T nucleotide change in exon 4b (c484CAG > TAG). This nonsense mutation resulted in a change of glutamine to a stop codon (Q162X) and is a novel NF1 gene alteration.
authors.affiliation: Division of Pediatric Hematology-Oncology, Oncology Institute, Istanbul University, Turkey. rejinkebudi@hotmail.com
authors.forename: Rejin
authors.initials: R
authors.lastname: Kebudi
authors.forename: Samuray
authors.initials: S
authors.lastname: Tuncer
authors.forename: Meena
authors.initials: M
authors.lastname: Upadhyaya
authors.forename: Gonul
authors.initials: G
authors.lastname: Peksayar
authors.forename: Gill
authors.initials: G
authors.lastname: Spurlock
authors.forename: Hulya
authors.initials: H
authors.lastname: Yazici
mesh_terms: D000328:Adult; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D001483:Base Sequence; D016190:Carboplatin / Q000008:administration & dosage / Q000009:adverse effects; D002675:Child, Preschool; D018389:Codon, Nonsense; D005091:Exons / Q000235:genetics; D005260:Female; D016514:Genes, Neurofibromatosis 1; D018095:Germ-Line Mutation; D020180:Heteroduplex Analysis; D006801:Humans; D007223:Infant; D008969:Molecular Sequence Data; D009378:Neoplasms, Multiple Primary / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D009456:Neurofibromatosis 1 / Q000235:genetics*; D020339:Optic Nerve Glioma / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D017354:Point Mutation; D035781:Siblings; D014750:Vincristine / Q000008:administration & dosage
chemical_list: D018389:Codon, Nonsense; D014750:Vincristine; D016190:Carboplatin