RT Journal Article
SR Electronic
T1 Spinal neurofibromatosis associated with classical neurofibromatosis type 1: genetic characterisation of an atypical case
JF BMJ Case Reports
FD BMJ Publishing Group Ltd
SP bcr2012008468
DO 10.1136/bcr-2012-008468
VO 2013
A1 Carman, Kursat bora
A1 Yakut, Ayten
A1 Anlar, Banu
A1 Ayter, Sukriye
YR 2013
UL http://casereports.bmj.com/content/2013/bcr-2012-008468.abstract
AB Spinal tumours are observed in about 40% of neurofibromatosis type 1 (NF1) patients and occur within two subgroups: (1) NF1 patients carrying classical diagnostic criteria and only one or few spinal tumours and (2) patients with few NF1 stigmata but multiple bilateral spinal tumours, an entity called spinal neurofibromatosis. We report a young patient whose classical NF1 stigmata and numerous spinal neurofibromas matched both groups. He carried a single base deletion, c.389delA in exon 4a, which creates a premature termination at codon 164. This case illustrates the possibility of variant phenotypes and a novel NF1 mutation associated with spinal neurofibromatosis.