Article Sections

Introduction

Neurofibromatosis type 1 (NF1), is an autosomal dominant genetic disorder characterized by the development of benign tumors of the nervous system (eg, optic gliomas) and café-au-lait macules.

Pathophysiology

NF1 is primarily caused by mutations in the NF1 gene, which encodes the protein neurofibromin.  Mutations cause reduced production and/or function of neurofibromin.  Because the neurofibromin functions as a tumor suppressor protein, loss of expression leads to uncontrolled cellular proliferation that affects multiple systems.

Genetics

NF1 is an autosomal dominant disorder caused by mutations of the NF1 gene on chromosome 17.  These mutations can be inherited in an autosomal dominant pattern or occur spontaneously.  Approximately half of cases result from new mutations, with the remaining cases inherited from affected parents.  NF1 has complete penetrance (all patients who inherit the gene develop some phenotypic traits), but individual expression is highly variable.

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