DNA diagnosis in the NF2 gene

Neurofibromatosis 2 (NF2) is a genetic disorder characterized by the develop-ment of multiple tumors in the central nervous system. Recently, the NF2 gene has been cloned and found to encode a novel member of the protein 4.1 family which is thought to link integral membrane proteins to the cytoskeleton. The identification of the NF2 tumor suppresser gene has allowed us to screen for pathological mutations in the gene. We have studied germline mutations in the NF2 gene by direct sequence analysis of genomic DNA from blood samples of NF2 patients. In the present report, we demonstrate a novel pathological missense mutation in a patient with NF2, which reveals that the variant observed may affect important functional regions or alter the protein on a larger scale by affecting conformation or degradation