title: Recurrent NF1 gene mutation in a patient with oligosymptomatic neurofibromatosis type 1 (NF1).
abstract: We report a 21-year-old male with symptomatic optic glioma who does not fulfill the diagnosis of neurofibromatosis 1 (NF1) according to standard NIH criteria. Analysis of the NF1 gene revealed a recurrent mutation in exon 37 (C6792A or Y2264X). This nonsense mutation causes skipping of exon 37 during the splicing process and is predicted to result in a protein shortened by 34 amino acid residues. The mutation was detected in all tissues examined (blood lymphocytes, oral mucosa, and dermal fibroblasts). The same mutation was previously found in 3 patients with clinically confirmed NF1. To our knowledge, this is the first report of an adult patient carrying a putative (non-mosaic) NF1 gene mutation in multiple tissues but not fulfilling the NIH criteria for the clinical diagnosis of NF1.
authors.affiliation: Institut für Medizinische Genetik, Universitätsklinikum Charité, Humboldt-Universität zu Berlin, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Buske
authors.forename: A
authors.initials: A
authors.lastname: Gewies
authors.forename: R
authors.initials: R
authors.lastname: Lehmann
authors.forename: K
authors.initials: K
authors.lastname: Rüther
authors.forename: B
authors.initials: B
authors.lastname: Algermissen
authors.forename: P
authors.initials: P
authors.lastname: Nürnberg
authors.forename: S
authors.initials: S
authors.lastname: Tinschert
mesh_terms: D000328:Adult; D018389:Codon, Nonsense / Q000235:genetics; D004252:DNA Mutational Analysis; D016514:Genes, Neurofibromatosis 1; D005910:Glioma / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000175:diagnosis / Q000235:genetics*; D019574:Optic Nerve Neoplasms / Q000235:genetics
chemical_list: D018389:Codon, Nonsense