title: Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion.
abstract: We report the detailed clinical presentation and molecular features of a spinal neurofibromatosis familial case where a 40-year-old woman, presenting with multiple bilateral spinal neurofibromas and no other clinical feature of neurofibromatosis type 1 (NF1), inherited a paternal large multiexonic deletion (c.5944-?_7126+?del) which resulted in NF1 gene haploinsufficiency at the RNA level. In the clinically unaffected 73-year-old father, spinal cord MRI disclosed bilateral and symmetrical hypertrophy of spinal lumbosacral roots. Our study widens the phenotypic and mutational spectrum of NF1 and illustrates the difficulties of counseling patients with border-line or atypical presentation of this disorder.
authors.affiliation: Department of Experimental Medicine, Sapienza University, Rome, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Pizzuti
authors.forename: Irene
authors.initials: I
authors.lastname: Bottillo
authors.forename: Francesca
authors.initials: F
authors.lastname: Inzana
authors.forename: Valentina
authors.initials: V
authors.lastname: Lanari
authors.forename: Francesca
authors.initials: F
authors.lastname: Buttarelli
authors.forename: Isabella
authors.initials: I
authors.lastname: Torrente
authors.forename: Anna Teresa
authors.initials: AT
authors.lastname: Giallonardo
authors.forename: Alessandro
authors.initials: A
authors.lastname: De Luca
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D005091:Exons; D005190:Family; D005260:Female; D017353:Gene Deletion; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D008297:Male; D017253:Neurofibromatoses / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D011859:Radiography; D013127:Spinal Nerves / Q000000981:diagnostic imaging / Q000473:pathology*