title: Spinal neurofibromatosis in a family with classical neurofibromatosis type 1 and a novel NF1 gene mutation.
abstract: Familial spinal neurofibromatosis (FSNF) is a rare form of neurofibromatosis type 1 (NF1) characterized by multiple, histologically proven neurofibromas of the spinal roots leaving no intact segments and associated neurofibromas of major peripheral nerves. It is sometimes associated with other NF1 stigmata. Most patients have NF1 gene mutations. We describe a patient who fulfilled the diagnostic criteria for spinal neurofibromatosis and belonged to a family in which other affected members exhibited classical NF1 stigmata. A novel missense (c.7109 T>A; p.Val2370Asp) mutation in exon 39 of the NF1 gene was present in the affected family members. The family displayed extreme phenotypic variability in the spectrum of NF1. To our knowledge, this is the first patient with spinal neurofibromatosis in the context of classical NF1 with an NF1 gene mutation. The term FSNF is inaccurate as this condition simply reflects the typical autosomal dominant pattern of NF1 inheritance with phenotypoc variability and does not encompass patients with sporadic disease or those in the context of a classical NF1 phenotype as reported in the present family. The term could be replaced by "spinal neurofibromatosis".
authors: Child Neurology Division, Department of Pediatrics, Sapienza University of Rome, Viale Regina Elena 324, Rome 00161, Italy.
authors: Francesco
authors: F
authors: Nicita
authors: Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
authors: Isabella
authors: I
authors: Torrente
authors: Child Neurology Division, Department of Pediatrics, Sapienza University of Rome, Viale Regina Elena 324, Rome 00161, Italy. Electronic address: childneurology.sapienzaroma@live.it.
authors: Alberto
authors: A
authors: Spalice
authors: Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy; Department of Experimental Medicine, Sapienza University of Rome, Italy.
authors: Irene
authors: I
authors: Bottillo
authors: Child Neurology Division, Department of Pediatrics, Sapienza University of Rome, Viale Regina Elena 324, Rome 00161, Italy.
authors: Laura
authors: L
authors: Papetti
authors: Child Neurology Division, Department of Pediatrics, Sapienza University of Rome, Viale Regina Elena 324, Rome 00161, Italy.
authors: Valentina
authors: V
authors: Pinna
authors: Child Neurology Division, Department of Pediatrics, Sapienza University of Rome, Viale Regina Elena 324, Rome 00161, Italy.
authors: Fabiana
authors: F
authors: Ursitti
authors: Department of Educational Processes, Chair of Pediatrics, University of Catania, Italy.
authors: Martino
authors: M
authors: Ruggieri
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D005190:Family; D005260:Female; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009333:Neck / Q000473:pathology; D017253:Neurofibromatoses / Q000235:genetics* / Q000473:pathology; D009456:Neurofibromatosis 1 / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D055815:Young Adult
keywords: Familial spinal neurofibromatosis; NF1; Neurocutaneous syndrome; Neurofibromatosis; Phakomatosis; Spinal cord