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RecurrentNF1 gene mutation in a patient with oligosymptomatic neurofibromatosis type 1 (NF1)

✍ Scribed by Buske, Annegret; Gewies, Andreas; Lehmann, R�diger; R�ther, Klaus; Algermissen, Bernd; N�rnberg, Peter; Tinschert, Sigrid

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 10 KB
Volume: 86
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19991008)86:4<328::aid-ajmg6>3.0.co;2-o

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✦ Synopsis

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.

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