NF1 mutations and clinical spectrum in patients with spinal neurofibromas.

Independent NF1 mutations in two large families with spinal neurofibromatosis.

The neurofibromatoses are a group of neurocutaneous disorders that show extreme clinical heterogeneity and are characterised by growth abnormalities in tissues derived from the embryonic neural crest. 2 Two main clinical forms exist, type 1 (NF1) and type 2 (NF2), as well as several alternate and related forms. 3 NF1 and NF2 are the only clinically well defined disorders and both genes have bee...

Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas

BACKGROUND Neurofibroma occurs as isolated or multiple lesions frequently associated with neurofibromatosis type 1 (NF1), a common autosomal dominant disorder affecting 1 in 3500 individuals. It is caused by mutations in the NF1 gene, which comprises 60 exons and is located on chromosome 17q11.2. NF1 is a fully penetrant gene exhibiting a mutation rate some 10-fold higher compared with most oth...

Hereditary spinal neurofibromatosis: a rare form of NF1?

We describe a family in which seven members in three generations were affected with a rare spinal neurofibromatosis. The affected adults showed, at the ages of 32, 37, 38, and 61, respectively, multiple spinal neurofibromas symmetrically affecting all spinal roots. Two patients were operated on for histopathologically proven cervical spinal neurofibromas. All patients had café au lait spots, on...

Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I

Neurofibromatosis type 1 (NF1) is a common genetic disorder characterized by the occurrence of nerve sheath tumors and considerable clinical heterogeneity. Some translational studies have been limited by the lack of animal models available for assessing patient-specific mutations. In order to test therapeutic approaches that might restore function to the mutated gene or gene product, we develop...

Spinal and para-spinal plexiform neurofibromas in NF1 patients, a clinical-radiological correlation study