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Mutation of the NF1 locus on chromosome 17p11.2-p12 causes neurofibromatosis type 1, a tumour predisposition syndrome presenting with café au lait spots, Lisch nodules, subcutaneous neurofibromas and skeletal and cutaneous neurofibromas. This study shows a correlation between the number of CAG repeat expansion in the huntingtin gene and the type of neurofibromas in individuals with neurofibromatosis type 1. In five of 12 individuals with neurofibromatosis type 1 who manifested neurofibromas at various locations, the CAG repeat expanded to over 40 units, but only in a small number of individuals with no such lesions. In three patients, the CAG repeat remained below 35, which is the normal value. This demonstrates that a repeat expansion is necessary, but not sufficient for neurofibromas to develop in individuals with neurofibromatosis type 1. Two patients with neurofibromatosis type 1 and an expanded CAG repeat were followed over a period of 13 years and were found to develop other tumours. Our results suggest that a CAG repeat expansion is correlated with the tumour-prone state in neurofibromat
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