We report a 21-year-old male with symptomatic optic glioma who does not ful
fill the diagnosis of neurofibromatosis 1 (NF1) according to standard NIH c
riteria. Analysis of the NF1 gene revealed a recurrent mutation in exon 37
(C6792A or Y2264X). This nonsense mutation causes skipping of exon 37 durin
g 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 k
nowledge, this is the first report of an adult patient carrying a putative
(non-mosaic) NF1 gene mutation in multiple tissues but not fulfilling the M
H criteria for the clinical diagnosis of NF1. Am. J. Med. Genet. 86:328-330
, 1999. (C) 1999 Wiley-Liss, Inc.