Table 1

Clinical features and NF1 mutations in patients with spinal tumours

Patient information				NF1 symptoms†							Spinal tumours‡				Molecular genetic findings§
Patient No	Sex	Age at onset	Age at investigation	Family history	CNf	CLS	PNf	Lisch nodules	Axillary freckling	Scoliosis	Affected nerve roots	Symmetry	Symptom	OP	Exon/ intron	Mutation	Mutation 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
308	M	41	54	No	0	1	No	1	0	No	38	Yes	Yes	Yes	5	IVS5-2A>G	Sp
Child 1	F	22	23	No	0	3	No	>2	0	No	38	Yes	Yes	No		Ditto
Child	F		1	Yes	0	0	No	0	0	No	NE		No			Ditto
Child 2	M	Died at 18		No	0	3	No	>2	0	No	Mult	Unk	Yes	No		NE
142	M	25	35	No	0	2	No	0	0	No	12	Yes	Yes	No, Bs	16	2759T>C	Ms (Leu>Pro)
Child	M		4	Yes	0	0	No	0	0	No	NE					Ditto
824	M	39	44	No	<10	5	Yes	>2	0	No	38	Yes	Yes	Yes	35	6598 C>G	Ms (Pro>Ala)
584	F	37	50	No	<10	4	Yes	>2	0	<10°	38	Yes	Yes	No	47	8093C>G	Ns¹⁶
Child 1	F	23	24	Yes	0	5	No	>2	0	No	38	Yes				NE
Child 2	M	Died at 18		Yes				Unk			Mult	Unk				NE
341	M	30	38	No	0	7	No	0	0	No	24	Yes	Yes	Yes		Not found
42	F	29	38	No	0	2	No	0	0	No	38	Yes	Yes	Yes		Not found
Father*	M	Died at 64		No	0	3	No	0	0	No	NE					NE
Patients with spinal tumours and typical NF1 symptoms
158	F	40	50	No	>300	>6	Yes	>2	>2	No	2	No	Yes	No	7	910C>T	Ns
Child 1	F		16	Yes	Mult	>6	No	>2	>2	No	2	No	No			Ditto
732	M	11	26	Yes	>150	>6	No	>2	0	<10°	20	No	Yes	No	12a	1733T>G	Ms (Leu>Arg)
Father	M			Unk	>30	>6	No	>2	>2	No	Mult	Unk	No			NE
833	M	41	42	Yes	Milt	>6	Yes	>2	>2	No	7	No	Yes	No	12b	1935–1936delG	Fs¹⁵
406	M	39	41	No	>240	>6	No	>2	>2	<10°	1	No	Yes	Yes	28	4905–4906ins11bp	Fs
Child 1	F		14	Yes	Mult	>6	No	>2	>2	No	0		No			Ditto
Child 2	F		19	Yes	Mult	>6	No	>2	>2	No	0		No			Ditto
745	M	22	36	No	>20	>6	Yes	>2	>2	No	38	Yes	Yes	Yes	29	5242C>T	Ns
894	F	49	51	No	50–60	>6	Yes	>2	>2	No	1	No	Yes	Yes	31	5788–5789delC	Fs
548	F	40	41	No	>150	>6	No	>2	>2	No	1	No	Yes	No	37	6757delG	Fs
459	M	35	36	No	>200	>6	No	>2	0	No	7	No	Yes	No	40	7257del 2bp	Fs
280	F	43	53	Yes	>150	>6	No	>2	2	<10°	38	Yes	Yes	Yes	41	7296C>A	Ns
442	M	22	24	No	Mult	>6	No	>2	0	<10°	38	Yes	Yes	Yes		Large del	Large del
546	M	14	15	No	>150	>6	No	>2	>2	No	38	Yes	Yes	No		Not found