An histologically atypical NF-type 1 patient with a new pathogenic mutation.
Here we describe a case of Neurofibromatosis type 1 (NF1) associated with an atypical histiocytic lesion and a new pathogenic mutation. The genetic analysis revealed an heterozygous mutation in the 5' splice site of intron 32, 6,084+1G → T. Histopathological findings are compatible with juvenile xanthogranuloma. The new, not already described, splicing mutation, is possibly partly responsible of the association between NF1 and the histiocitic lesion.
Dipartimento di Neuroscienze, Sezione Neurologia e Neurofisiologia Clinica, Azienda Ospedaliera-Universitaria Senese, Policlinico Le Scotte, Viale Bracci, 53100, Siena, Ital. gatsby@hotmail.it
Giovanni
G
Bianco
Giuseppe
G
Greco
Manila
M
Antonelli
Stefania
S
Casali
Cinzia
C
Castagnini
D000328:Adult; D005260:Female; D016514:Genes, Neurofibromatosis 1 / Q000502:physiology; D006801:Humans; D009154:Mutation / Q000235:genetics*; D009456:Neurofibromatosis 1 / Q000175:diagnosis* / Q000235:genetics*