Table 1

Clinical features and NF1 mutations in patients with spinal tumours

Patient informationNF1 symptoms†Spinal tumours‡Molecular genetic findings§
Patient NoSexAge at onsetAge at investigationFamily historyCNfCLSPNfLisch nodulesAxillary frecklingScoliosisAffected nerve rootsSymmetrySymptomOPExon/ intronMutationMutation type
*This parent had a phaeochromocytoma.
†: Unk = unkown; Mult = multiple; CNf = cutaneous neufibromas; PNf = plexiform neurofibromas; CLS = café au lait spots.
‡: OP, operation; Bs, biopsied; NE, not examined.
§: Ns, nonsense mutation; Ms, missense mutation; Sp, splicing mutation; Fs, frameshift mutation. Novel mutations are shown in bold.
Patients with spinal tumours but only a few or no other signs for NF1
308M4154No01No10No38YesYesYes 5 IVS5-2A>G Sp
    Child 1F2223No03No>20No38YesYesNoDitto
    Child 2MDied at 18No03No>20NoMultUnkYesNoNE
142M2535No02No00No12YesYesNo, Bs 16 2759T>C Ms (Leu>Pro)
824M3944No<105Yes>20No38YesYesYes 35 6598 C>G Ms (Pro>Ala)
    Child 1F2324Yes05No>20No38YesNE
    Child 2MDied at 18YesUnkMultUnkNE
341M3038No07No00No24YesYesYesNot found
42F2938No02No00No38YesYesYesNot found
    Father*MDied at 64No03No00NoNENE
Patients with spinal tumours and typical NF1 symptoms
    Child 1F16YesMult>6No>2>2No2NoNoDitto
732M1126Yes>150>6No>20<10°20NoYesNo 12a 1733T>G Ms (Leu>Arg)
406M3941No>240>6No>2>2<10°1NoYesYes 28 4905–4906ins11bp Fs
    Child 1F14YesMult>6No>2>2No0NoDitto
    Child 2F19YesMult>6No>2>2No0NoDitto
894F4951No50–60>6Yes>2>2No1NoYesYes 31 5788–5789delC Fs
548F4041No>150>6No>2>2No1NoYesNo 37 6757delG Fs
459M3536No>200>6No>20No7NoYesNo 40 7257del 2bp Fs
280F4353Yes>150>6No>22<10°38YesYesYes 41 7296C>A Ns
442M2224NoMult>6No>20<10°38YesYesYesLarge delLarge del
546M1415No>150>6No>2>2No38YesYesNoNot found