Neurofibromatosis: from gene to phenotype

Abstract

Neurofibromatosis type 1 (NF1) is a common autosomal dominant disease which predominantly affects tissues derived from neural ectoderm. The gene has recently been cloned, and the biochemistry and cell biology of normal and mutant forms is gradually being elucidated. Despite the success of cloning the gene, there is a long way to go before the different features of the disease phenotype can be explained. Some of the questions which arise in the attempt to link the mutation to the phenotype are considered, with possible ways to approach them.