Neurofibromatosis type 2: Genetic and clinical features

Abstract

For decades, neurofibromatosis type 2 (NF2) was misclassified with the more common neurofibromatosis type 1 (NF1), until 1987 when it was found via genetic linkage analysis that the gene for NF1 was localized to chromosome 17 and the gene for NF2 was localized to chromosome 22. Large, population-based studies have shown that vestibular schwannomas (VS), the hallmark of NF2, do not occur at increased frequency in patients with NF1. Typical clinical features of NF2 are bilateral VS or a family history of NF2, plus either unilateral VS or any two of the following: meningioma, glioma, neurofibroma, schwannoma or posterior subcapsular lenticular opacities. Presymptomatic genetic tests are now possible in the majority of families, and it is hoped that somatic gene therapy will be developed for the treatment of this disease.