Neurofibromatosis type 1-associated tumours: Their somatic mutational spectrum and pathogenesis

Spyk, Sebastian Laycock-van; Thomas, Nick; Cooper, David N.; Upadhyaya, Meena

doi:10.1186/1479-7364-5-6-623

Human Genomics

Table S1 Summary of germline mutations and loss of heterozygosity (LOH) in NF1-associated tumours

From: Neurofibromatosis type 1-associated tumours: Their somatic mutational spectrum and pathogenesis

Patient ID	Germline mutation	Type of germline mutation	LOH	LOH markers	Predicted extent of LOH	Evidence for genomic deletion? MLPA/CGHarrayCGH/FISH	Probable mechanism	No. samples with LOH	Reference
Dermal neurofibromas
T190.2	Exon 2 and 3 deletion	Two exon deletion	Yes	E5 RFLP, I12b, IVS27A28.4, J1/J2, EVI20, IVS38GT53.0, 3'NF1, C7CT1/2 (3'UTR), EW206, EW207, D17S798, D17S1868	NF1 and 3' flanking region	MLPA	Deletion	5/23	1
T190.6			Yes	E5 RFLP, I12b, IVS27A28.4, J1/J2, EVI20, IVS38GT53.0, 3'NF1, C7CT1/2 (3'UTR), EW206	NF1 and 3' flanking region	MLPA	Deletion
T190.11			Yes	E5 RFLP, I12b, IVS27A28.4, J1/J2, EVI20, IVS38GT53.0, 3'NF1, C7CT1/2 (3'UTR)	NF1 and 3' flanking region	MLPA	Deletion
T190.17			Yes	E5 RFLP, I12b, IVS27A28.4, J1/J2	Intragenic NF1	MLPA	Deletion
T190.18ii			Yes	E5 RFLP	Intragenic NF1	MLPA	Deletion
T206.1	Ex4b: c.499_502delTGTT; p.C167GnfsX9	4 bp deletion (FS)		LOH		NIA			Unpublished data, Cardiff
T206.2				LOH
T206.3				LOH
L002_3	Ex9: c.1246C > T; p.Arg416X	Nonsense	Yes	rs29001484, rs4583306, NF1 germline mutation, rs2055091, rs11869264	NF1	Array CGH	Deletion	6/28	2
L002_5			Yes	rs29001484, rs4583306, NF1 germline mutation, rs2055091, rs11869264	NF1	Array CGH	Mitotic recombination
L002_12			Yes	rs29001484, rs4583306, NF1 germline mutation, rs2055091, rs11869264	NF1	Array CGH	Mitotic recombination
L002 C			Yes	NS		NIA		3/38	3
T473.1A	Ex10b: c.1413- 1414delAG; p.Lys471AsnfsX4	2 bp deletion (FS)	Yes	HHH202, J1J2, IVS27, EV120, IVS38	NF1	MLPA	Mitotic recombination	22/89	4
T473.1C			Yes	HHH202, J1J2, EV120	NF1	MLPA	Mitotic recombination
T473.3			Yes	J1J2, EV120, IVS38	NF1	MLPA	Mitotic recombination
T473.5			Yes	HHH202, J1J2, EV120, IVS38	NF1	MLPA	Mitotic recombination
T473.7			Yes	J1J2, EV120	NF1	MLPA	Mitotic recombination
T473.8			Yes	HHH202, J1J2, EV120, IVS38, 3'NF1, EW207, D17S949, D17S1822	NF1 and 3' flanking region	MLPA	Mitotic recombination
T473.10			Yes	J1J2, EV120, IVS38	NF1	MLPA	Mitotic recombination
T473.14			Yes	J1J2, EV120, IVS38, 3'NF1, EW207, D17S949, D17S1822	NF1 and 3' flanking region	MLPA	Mitotic recombination
T473.15			Yes	J1J2, EV120, IVS38, 3'NF1	NF1	MLPA	Mitotic recombination
T473.16			Yes	J1J2, EV120, IVS38, 3'NF1, EW207, D17S949, D17S1822	NF1 and 3' flanking region	MLPA	Mitotic recombination
T473.21			Yes	J1J2, EV120	NF1	MLPA	Mitotic recombination
T473.35			Yes	EV120, IVS38	Intragenic NF1	MLPA	Mitotic recombination
T473.30			Yes	J1J2, EV120, IVS38, 3'NF1, EW207, D17S949	NF1 and 3' flanking region	MLPA	Mitotic recombination
T473.32			Yes	J1J2, EV120	Intragenic NF1	MLPA	Mitotic recombination
T473.34			Yes	EV120, IVS38	Intragenic NF1	MLPA	Mitotic recombination
T225.1	Ex10b deletion [MLPA]	Single exon deletion		LOH		NIA			Unpublished data, Cardiff
T225.3				LOH
T68.2	Deletion exons 10b-19b	Partial gene deletion	Yes	UT172 - I38 206,207	Exon 5-3' region	NIA			Unpublished data, Cardiff
T68.3			Yes	UT172 - I38 206,207	Exon 5-3' region
CLJ1N	Ex13: c.2041C > T; p.Arg681X	Nonsense	Yes	NF1, D17S1800	NF1 and 3' flanking region	NIA		32/126	5, 6, 7
CLJ2N			Yes	D17S33, D17S1294, NF1, D17S1800, D17S798, D17S250, D17S787, D17S802	Majority of 17q
T170.3	Ex13: c.2041C > T; p.Arg681X	Nonsense		LOH		NIA			Unpublished data, Cardiff
T170.2				LOH
ABA1N	Ex13: c.2251 + 2T > C	Splice site	Yes	DS17S1824, D17S841, D17S1294, D17S1863, NF1, D17S1800, D17S1880, D17S798, D17S250, D17S787, D17S802, D17S784, D17S928	Majority of 17q	NIA		32/126	5, 6, 7
ABA2N			Yes	DS17S1824, D17S841, D17S1294, D17S1863, NF1, D17S1800, D17S1880, D17S798, D17S250, D17S787, D17S802, D17S784, D17S928	Majority of 17q				5, 6, 7
T436	Ex17: c.2875C > T; p.Glu959X	Nonsense	Yes	IVS27, EV120, IVS38	Intragenic NF1	MLPA	Mitotic recombination	22/89	4
T439			Yes	IVS27, EV120, IVS38	Intragenic NF1	MLPA	Mitotic recombination
T440			Yes	IVS27, EV120, IVS38	Intragenic NF1	MLPA	Mitotic recombination
T444			Yes	HHH202, J1J2, IVS27, EV120, IVS38, 3'NF1	NF1 and flanking regions	MLPA	Mitotic recombination
T446			Yes	IVS27, EV120, IVS38	Intragenic NF1	MLPA	Mitotic recombination
T448			Yes	HHH202, J1J2, IVS27, EV120, IVS38, 3'NF1	NF1 and flanking regions	MLPA	Mitotic recombination
T454			Yes	IVS27, EV120, IVS38	Intragenic NF1	MLPA	Mitotic recombination
EAD1N	Ex20: c.3419C > G; p.Ser1140X	Nonsense	Yes	NS		NIA		32/126	5, 6, 7
EAD2N
CSG3N	Ex21: c.3525_3526delAA; p.Arg1176GlufsX17	2 bp deletion (FS)	Yes	D17S1824, D17S1294, NF1, D17S1800, D17S1880, D17S798	NF1 and flanking regions	NIA		32/126	5, 6, 7
CSG38N			Yes	NF1	NF1
CSN1N			Yes	D17S1294, NF1, D17S1880, D17S798, D17S250, D17S787, D17S784, D17S928	Majority of 17q
CSG1N			Yes	D17S1294, NF1, D17S1800, D17S1880, D17S798, D17S250, D17S787, D17S802	Majority of 17q
CSG2N			Yes	DS17S1824, D17S1294, NF1, D17S1800, D17S1880, D17S798, D17S250, D17S787, D17S802	Majority of 17q
CSG4N			Yes	DS17S1824, D17S1294, NF1, D17S1800, D17S1880, D17S798, D17S250, D17S787, D17S802	Majority of 17q
CSG5N			Yes	DS17S1824, D17S1294, NF1, D17S1800, D17S1880, D17S798, D17S250, D17S787, D17S802	Majority of 17q
CSG21N			Yes	DS17S1824, D17S1294, NF1, D17S1800, D17S1880, D17S798, D17S250, D17S787, D17S802	Majority of 17q
CSG25N			Yes	D17S1294, NF1, D17S1800, D17S1880, D17S798, D17S250, D17S787, D17S802	Majority of 17q
CSG42N			Yes	D17S1294, NF1, D17S1800, D17S1880, D17S798, D17S250, D17S787, D17S802	Majority of 17q
CSG51N			Yes	DS17S1824, D17S1294, NF1, D17S1800, D17S1880, D17S798, D17S250, D17S787, D17S802	Majority of 17q	FISH	Mitotic recombination
CSG52N			Yes	D17S33, DS17S1824, D17S1294, NF1, D17S1800, D17S1880, D17S798, D17S250, D17S787, D17S802	Majority of 17q	NIA
CSG62N			Yes	NS
T177	Ex23.1: c.3916 C > T; p.Arg1306X	Nonsense		LOH		NIA			Unpublished data, Cardiff
T213				LOH
NF44 UHG_1	Ex27a: c.4515-2A > T	Splice site	Yes	NF1 germline mutation, rs9891455	NF1	Array CGH	Deletion	6/28	2
NF44 UHG_41			Yes	rs1018190	NF1	Array CGH	Deletion
T106.1	Ex37: c.6791dupA; p.Tyr2264X	1 bp insertion (FS)	Yes	IVS38, 3'NF1-1		NIA			Unpublished data, Cardiff
T106.5			Yes	I41 - C3	3' UTR
T106.6			Yes	J1J2, EVI20, I38, I41, C3C7, 206, 207
T210.2	Ex42: c.7458delC; p.Tyr2487IlefsX5	1 bp deletion (FS)				30% WG			Unpublished data, Cardiff
T210.4						30% WG
T210.8						30% WG
T210.4						E8: 30% WG
T210.5						E8: exon duplication
HT1335	Ex4c: c.7237C > T; p.Gln2413X	Nonsense				E16: del			Unpublished data, Cardiff
T128.30	Ex6: c.784C > T; p.Arg262Cys	Missense	Yes		3' UTR to 3' region	NIA			Unpublished data, Cardiff
T192.4	Deletion of exons 6-27a [MLPA]	Multi-exon deletion		LOH: J1J2, EV120, HHH202,					Unpublished data, Cardiff
p062	Ex7: c.910C > T; p.Arg304X	Nonsense		LOH (6 samples)		Deletion (2 samples)			Unpublished data, Cardiff
p082	Ex7: c.910C > T; p.Arg304X	Nonsense		LOH (5 samples)		Deletion(5 samples)
ACF1N	Ex7: c.910C > T; p.Arg304X	Nonsense	Yes	D17S841, D17S1294, D17S1863, NF1, D17S1880, D17S798, D17S250, D17S802, D17S784	Majority of 17q	FISH	Mitotic recombination	32/126	5, 6, 7
MIGS1N	Ex7: c.910C > T; p.Arg304X	Nonsense	Yes	D171863, NF1, D17S1800, D17S1880	NF1 and flanking regions	NIA		32/126
CAG1N	Ex7: c.979delCinsTT; p.Leu327PhefsX3	Indel (FS)	Yes	NF1	Intragenic NF1	NIA		32/126
CAG3N	Ex7: c.979delCinsTT; p.Leu327PhefsX3	Indel (FS)	Yes	NS		NIA		32/126
T199	Ex7: c.983_984delGT; p.Cys324X	2 bp deletion (FS)	Yes	IVS12, J1J2		NIA			Unpublished data, Cardiff
NF56-2	Ex9: c.1246C > T; p.Arg416X	Missense	Yes	Pin 1, RsaI, AluI, Pin 28, 530, NF1 3'UTR, Mfd 15	NF1 and flanking regions	NIA		1/6	8
T197A	Ex10a: c.1318C > T p.Arg440X	Nonsense		LOH?					Unpublished data, Cardiff
CLT1N	Ex12a: c.1754_1757delTAAC; p.Thr586SerfsX19	4 bp deletion (FS)	Yes	D17S841, D17S1863, NF1, D17S1800, D17S1880, D17S787, D17S802	Majority of 17q			32/126
p022	Ex12a: c.1756_1759delACTA; p.Thr586ValfsX18	4 bp deletion (FS)		LOH (9 samples)		Deletion (2 samples)			Unpublished data, Cardiff
p020	Ex13: c.2041C > T; p.Arg681X	Nonsense		LOH (2 samples)		Deletion (0 samples)
T141.5	Ex13: c.2233delA; p.Ser745AlafsX2	1 bp deletion (FS)	Yes	202, 12b, IVS27, IVS38, 3'NF1					Unpublished data, Cardiff
p103	Ex15: c.2338A > C; p.Thr780Pro	Missense		LOH (10 samples)		Deletion(3 samples)			Unpublished data, Cardiff
T22	Ex17: c.2851-2A > G	Splice site	Yes		3'UTR to 3' flanking regions				Unpublished data, Cardiff
NF253-UHG E	Ex17: c.2851-2A > G	Splice site	Yes	Not specific		NIA		3/38	3
L005 A	Ex18: c.3113 + 1G > A	Splice site
319T1	Ex19b: c.3208C > T; p.Gln1070X	Nonsense	Yes	NF-exon5	Intragenic NF1			2/15	9
p023	Ex21: c.3525_3526delAA; p.Arg1176SerfsX18	2 bp deletion (FS)		LOH (14 samples)		Deletion (5 samples)			Unpublished data, Cardiff
p011	Ex22: c.3826C > T; p.Arg1276X	Nonsense		LOH (5 samples)		Deletion (1 sample)
MASG2N	Ex22: c.3870 + 1G > T	Splice site	Yes	NF1, D17S1880, D17S798, D17S250, D17S787	Majority of 17q	FISH	Mitotic recombination	32/126	5, 6, 7
T171	Ex23.2: c.4084 C > T; p.Arg1362X	Nonsense		LOH					Unpublished data, Cardiff
p104	Ex25: c.4309G > T; p.Glu1436X	Nonsense		LOH (3 samples)		Deletion (0 samples)			Unpublished data, Cardiff
p078	Ex27a: c.4537C > T; p.Arg1513X	Nonsense		LOH (6 samples)		Deletion (0 samples)
p084	Ex27a: c.4572C > G; p.Tyr1524X	Nonsense		LOH (2 samples)		Deletion (0 samples)
p102	Ex29: c.5242C > T; p.Arg1748X	Nonsense		LOH (5 samples)		Deletion (2 samples)
p055	Ex30: c.5710 G > T; p.Glu1904X	Nonsense		LOH (1 sample)		Deletion (0 samples)
EMN1N	Ex30: c.5749 + 332A > G	Splice site	Yes	NF1, D17S1800	NF1 and 3' flanking region			32/126	5, 6, 7
p027	Ex33: c.6226delG; p.Ala2076GlnfsX13	1 bp deletion (FS)		LOH (1 sample)		Deletion (0 samples)			Unpublished data, Cardiff
p052	Ex37: c.6791_6792dupA; p.Tyr2264X	1 bp duplication (FS)		LOH (1 sample)		Deletion (1 sample)
T23.6	Ex41: c.7268_7269delCA; p.Thr2423SerfsX2	2 bp deletion (FS)	Yes	EVI20, I38, I41, C3		NIA			Unpublished data, Cardiff
T100	Ex41: c.7267dupA; p.Thr2426X	1 bp duplication (FS)	Yes		I38 to 3'UTR				Unpublished data, Cardiff
T164.1	Ex41: c.7285 C > T; p.Arg2429X	Nonsense		LOH					Unpublished data, Cardiff
MAR2N	NI	NI	Yes	NF1, D17S1800	NF1 and 3' flanking region	NIA		32/126	5, 6, 7
MOPT2N	NI	NI	Yes	D17S1824, D17S1294, D171863, NF1, D17S1800, D17S1880	NF1 and flanking regions
NGL1N	NI	NI	Yes	D17S841, D17S1294, NF1, D17S1800, D17S1880, D17S798, D17S250, D17S802, D17S784, D17S928	Majority of 17q
JRR2N	NI	NI	Yes	D17S1294, D17S1863, NF1, D17S1800, D17S1880, D17S798, D17S250, D17S787	Majority of 17q
SLC1N	NI	NI	Yes	D17S33, DS17S1824, D17S841, D17S1294, NF1, D17S1880, D17S798, D17S250, D17S784, D17S928	Majority of 17q
HT1377.1	NI	NI	Yes						Unpublished data, Cardiff
HT1377.2	NI	NI	Yes			NIA
T109.4	NI	NI	Yes	I38, I41, 206	3' region
T167.c	NI	NI	Yes	IVS27, IVS38, 3'NF1
T192.1	NI	NI	Yes	202, IVS12, J1J2, IVS27
T197	NI	NI	Yes	J1J2
T227.2	NI	NI	Yes	IVS12, J1J2
T230.2	NI	NI	Yes	202, IVS12, IVS27
T232.2	NI	NI	Yes	J1J2
T241	NI	NI	Yes	J1J2
NF253_32	NI	NI	Yes	rs1018190, rs9891455, rs8074061	NF1	Array CGH	Mitotic recombination	6/28	2
T224.1	NI	NI		LOH		NIA			Unpublished data, Cardiff
T162	NI	NI		LOH
T172	NI	NI		LOH
T179.1	NI	NI		LOH
T204.2	NI	NI		LOH
T224.2	NI	NI		LOH
T173.1	NI	NI		LOH
T179.2	NI	NI		LOH
T1281.2	NI	NI		LOH
T1281.4	NI	NI		LOH
T220	NI	NI		LOH
T221	NI	NI		LOH
T223	NI	NI		LOH
T258.1	NI	NI		LOH
T258.2	NI	NI		LOH
SCs from cutaneous neurofibromas
T543.2	Ex4a: c.373delGinsATGTGT; p.Arg125HisfsX4	Indel (FS)	Yes	J1J2-3'NF1					Unpublished data, Cardiff
T536A	Ex40: c.7127_7258del132 [Exon 40 deletion?]	132 bp deletion (FS)	Yes	J1J2-IVS38		NIA			Unpublished data, Cardiff
T541.2			Yes	EV120-3'NF1
T541.4			Yes	EV120-3'NF1
T539	90 kb Deletion	Genomic deletion				Duplication: Ex19b-25			Unpublished data, Cardiff
PNFs
37a	Ex24: c.4268A > G; p.Lys1423Arg	Missense	Yes	HHH202, E5, I12b, EVI20,3'NF1-1 Complete gene deletion (1.4 Mb)	NF1 (1.4 Mb)	MLPA	Genomic deletion	20/29	10
37b			Yes	IVS27, EVI20, IVS38, 3'NF1-1 Probable gene deletion	NF1 and 3' flanking region	MLPA	Genomic deletion	20/29	10
T210.2 PNF	Ex42: c.7458delC; p.Tyr2486IlefsX15	1 bp deletion (FS)	Yes	LOH detected in only 30% of cells			30% whole gene deletion		Unpublished data, Cardiff
T261 PNF	Ex3: c.288 + 1 delG	1 bp deletion at a splice site	LOH IVS38
605-1	Ex4a: c.289-2A > G	Splice site	Yes	D17S975, IVS27TG24.8, IVS27TG28.4, D17S1166, D17S1880, D17S907, D17S1788, D17S1861, D17S1809, D17S668, D17S928	NF1 and flanking regions	MLPA	Mitotic recombination	13/43	11
47/T411	Ex4a: c.440_441GC > AA; p.Cys147X	Nonsense	LOH IVS27, IVS38, 3'NF1-1	IVS38, 3'NF1-1	NF1 and 3' flanking region	NIA		20/29	10
8/T328	Ex4b: c.480-2A > G	Splice site	LOH: IVS27, IVS38	IVS27, IVS38	Intragenic NF1	MLPA	Mitotic recombination	20/29	10
335-3	Ex4b: c.528T > A; p.Asp176Glu	Missense	Yes	D17S2237, IVS27TG24.8, D17S1166, D17S1800	NF1	MLPA	Genomic deletion	13/43	11
59	Ex6: c.752dupA; p.Asp241GlufsX7	Small Insertion (fs)	Yes	intron 38 marker 53.0	Intragenic NF1	NIA		1/38	12
T265.2	Ex9: c.1186-13delT (Pathogenicity?)	1 bp deletion within a splice site	LOH ivs27, ivs38
374-4	Ex10a: c.1318C > T; p.Arg440X	Nonsense	Yes	IVS27TG24.8, IVS27TG28.4, D17S1166, D17S1880, D17S907, D17S1861	NF1 and 3' flanking region	MLPA	Mitotic recombination	13/43	11
14a/ T412	Ex13: c.2076C > G; p.Tyr692X	Nonsense	I12B, 3' NF1	I12B, 3' NF1-1	NF1 and 3' flanking region	MLPA	Mitotic recombination	20/29	10
T263	Ex15: c.2326-2A > T	Splice site	LOH ivs27 [rest hom]
22/T394	Ex16: c.2446C > T; p.Arg816X	Nonsense	IVS27	IVS 27, EVI20	Intragenic NF1	MLPA	Mitotic recombination	20/29	10
T437.2	Ex16: c.2497delT; p.Ser833ProfsX7	1 bp deletion (FS)	1-6ex 1,2,3,4a,4b,4c, 6 deletion			NIA
T212	Ex16: c.2705deT; p.Met902ArgfsX22	1 bp deletion (FS)					Ex1-Ex 41 deletion [variable ?]
18/T298	Ex18: c.3113 + 1G > A	Splice site	LOH :HHH202, IVS 27	IVS 27	Intragenic NF1	MLPA	Inconclusive	20/29	10
30/T342	Ex19a: c.3123G > T; p.Met1041Ile	Missense	Yes	Determined by MLPA	NF1 (1.4 Mb)	MLPA	Genomic deletion	20/29	10
5	Ex20: c.345&_3460delCTCA; p.Leu1153MetfsX3	4 bp deletion (FS)	Yes	NF1 gene	NF1			1/3	13
23/ T373.2	Ex22: c.3826C > T; p.Arg1276X	Nonsense	WG deletion [mixed cell population]	IVS 27, IVS38	Intragenic NF1	MLPA	Inconclusive	20/29	10
452T	Ex23.2: c.4084C > T; p.Arg1362X	Nonsense	Yes	NF-exon5 RFLP, NF- (GATN)n intron 26, NF- Alu(AAAT)n(i27b), NF- EVI2B RFLP(i27b), NF- EVI2A RFLP(i27b), NF- IVSAC28.4(i27b), NF- Evi-20, NF- IVS38TG53.0, NF intron 41 RFLP, D17S57 (EW206), D17S250, D17S1301, D17S384	NF1 and 3' flanking region	NIA		4/10	9
27/T301	Ex23.2: c.4095C > A; p.Cys1365X	Nonsense	Yes	Determined by MLPA	Intragenic NF1	MLPA	Genomic deletion	20/29	10
T330	Ex24: c.4267A > G; p.Lys1423Glu	Missense	IVS27			NIA
6/T362/ T395	Ex24: c.4268A > G; p.Lys1423Arg	Missense	Yes	EW206, EW207	Intragenic NF1	MLPA	Inconclusive	20/29
T362 PNF	Ex24: c.4268A > G; p.Lys1423Arg	Missense	LOH: HHH202, E5, I12b, EVI20, 3'NF			NIA
T395 PNF	Ex24: c.4268A > G; p.Lys1423Arg	Missense	LOH:IVS27, EVI20, IVS38, 3'NF1-1
317-1	Ex25: c.4270-2A > G	Splice site	Yes	IVS27TG24.8, IVS27TG28.4, D17S1166	NF1	MLPA	Genomic deletion	13/43	11
T393	Ex27a: c.4537C > T; p.Arg1513X	Nonsense					Whole gene deletion
26/T300	Ex29: c.5227_5229delGTAinsT; p.Val1743TyrfsX17	Indel (FS)	Yes	Determined by MLPA	NF1 (1.4 Mb)	MLPA	Genomic deletion	20/29	10
338-2	Ex29: c.5290delG; p.Ala1764LeufsX8	1 bp deletion (FS)	Yes	D17S783, D17S975, IVS27TG28.4, D17S1166, D17S1880	NF1 and flanking regions	MLPA	Genomic deletion	13/43	11
952-8	Ex30: c.5749 + 4delA	Splice site	Yes	D17S975, D17S1880, D17S907, D17S1788, D17S1861, D17S1809, D17S668, D17S928	NF1 and flanking regions	MLPA	Genomic deletion
34/T392	Ex31: c.5750_5754dupGTATT; p.Glu1919ValfsX4	5 bp duplication (FS)	Yes	EVI20, IVS38, 3'NF1-1,	NF1 and 3' flanking region	NIA		20/29	10
21/T357	Ex37: c.6791dupA; p.Tyr2264X	1 bp duplication (FS)	LOH: EW206	EW206	Intragenic NF1	MLPA	Mitotic recombination
T375	Ex40: c.7237C > T; p.Gln2413X	Nonsense	16Ex 16 deletion, ex13 & 18 also lower			NIA
7	Ex41: c.7285C > T; p.Arg2429X	Nonsense	Yes	HHH202, IVS27	Intragenic NF1	MLPA	Mitotic recombination
15/T407	Ex46: c.7926dupT; p.Lys2643X	1 bp duplication (FS)	LOH 3'NF1-1, EW206	3'NF1-1	NF1 and 3' flanking region	MLPA	Inconclusive
c1 UK/ T56	Ex46: c.8035A > T; p.Thr2679Ser	Missense	LOH IVS27	IVS27	Intragenic NF1	NIA
T408	Segmental NF1 NI	NI	LOH: IVS27, IVS38, 3'NF1-1
T377	Segmental NF1 NI	NI	WG deletion
39	Segmental NF1 NI	NI	Yes	Determined by MLPA	NF1 (1.1 Mb)	MLPA	Genomic deletion
43	Segmental NF1 NI	NI	Yes	IVS27, IVS38, 3'NF1-1	NF1 and 3' flanking region	MLPA	Mitotic recombination
T385.1	NI	NI	Yes			NIA			Unpublished data, Cardiff
T385.2	NI	NI	LOH/del
T316	NI	NI	Yes	LOH: HHH202, E5, I12b, EVI20,3'NF, C71/2, EW206
76, 45-95	NI	NI	Yes	IVS27AC28.4, IVS27TG24.8, IVS38GT53	Intragenic NF1	NIA		8/14	14
x1, 47-95	NI	NI	Yes	IVS27AC28.4, M98509, IVS38GT53	Intragenic NF1
x1, 27-97	NI	NI	Yes	IVS27AC28.4, M98509, IVS38GT53	Intragenic NF1
293, 71-97	NI	NI	Yes	M98509, IVS27TG24.8, IVS38GT53	Intragenic NF1
293, 124-98	NI	NI	Yes	M98509, IVS27TG24.8, IVS38GT54	Intragenic NF1
290, 83-97	NI	NI	Yes	IVS27AC28.4, IVS27TG24.8, IVS38GT53	Intragenic NF1
290, 121-98	NI	NI	Yes	IVS27AC28.4, IVS27TG24.8, IVS38GT53	Intragenic NF1
292, 122-98	NI	NI	Yes	IVS27TG24.8, IVS38GT53	Intragenic NF1
PD-T1	NI	NI	Yes	NF-Alu(AAAT)n(i27b), D17S1800	Intragenic NF1	NIA		4/10	9
386T	NI	NI		NF-Alu(AAAT) n(i27b), NF- IVSAC28.4(i27b), NF-Evi-20, NF- IVS38TG53.0, D17S1800	NF1
454T-V	NI	NI	Yes	NF-Alu(AAAT)n(i27b), NF-EVI2B RFLP(i27b), NF-IVSAC28.4(i27b), NF-Evi-20, NF intron 41 RFLP, D17S57 (EW206), D17S1301	NF1
NF284-1	NI	NI	Yes	Exon 28 14bp duplication marker (specific to germline lesion found)	Intragenic NF1			1/1	8
2654-97	NI	NI	Yes	Determined by FISH	Whole chromosome	FISH	Genomic deletion	1/11	15
385	NI	NI	Yes	D17S975, D17S1880, D17S907, D17S1788, D17S1861, D17S1809, D17S668, D17S928	NF1 and flanking regions	MLPA	Mitotic recombination	13/43	11
389-2	NI	NI	Yes	D17S975, D17S1307, D17S2237, IVS27TG28.4, D17S1800, D17S1880, D17S907, D17S1861, D17S1809, D17S668, D17S928	NF1 and flanking regions	MLPA	Mitotic recombination
604-4	NI	NI	Yes	D17S1800, D17S1880, D17S907, D17S1861, D17S928	NF1 and flanking regions	MLPA	Mitotic recombination
913-5	NI	NI	Yes	D17S2237, IVS27TG24.8, D17S1880, D17S1788, D17S1861	NF1 and 3' flanking region	MLPA	Genomic deletion
612-1	NI	NI	Yes	D17S1307, D17S2237, IVS27TG24.8, D17S1166, D17S1800, D17S1880	NF1 and flanking regions	MLPA	Genomic deletion
337-5	NI	NI	Yes	D17S1307, D17S2237, IVS27TG24.8, D17S1166, D17S1800	NF1	MLPA	Genomic deletion
390	NI	NI	Yes	IVS27TG24.8, IVS27TG28.4, D17S1166, D17S1800	NF1	MLPA	Genomic deletion
49	NI	NI	Yes	HHH202, E5, I12b, EVI20, 3'NF1-1, C71/2, EW206	NF1	MLPA	Inconclusive	20/29	10
Spinal neurofibromas
1	Ex7: c.899T > C; p.Leu300Pro	Missense	Yes	EVI20, IVS38	Intragenic NF1	MLPA	Mitotic recombination	8/22	16
7	Ex9: c.1186-13delT (Pathogenicity?)	1 bp deletion (FS)	Yes	IVS27, IVS38	Intragenic NF1	MLPA	Mitotic recombination
3	Ex16: c.2410-2A > T	Splice site	Yes	IVS27	Intragenic NF1	MLPA	Mitotic recombination
11.1	Ex22: c.3827G > A; p.Arg1276Glu	Missense	Yes	IVS38	Intragenic NF1	MLPA	Mitotic recombination
11.2			Yes	Deletion of exons 13 > 16	Intragenic NF1	MLPA	Deletion
2	Ex23.2: c.4066G > A; p.Glu1356Lys	Missense	Yes	27, 3'NF1	NF1	MLPA	Mitotic recombination
10	Ex29: c.5242C > T; p.Arg1748X	Nonsense	Yes	I12B, Alu1, J1J2 and EVI20	Intragenic NF1	MLPA	Mitotic recombination
MPNSTs
T196.20	Deletion exons 2 and 3	Two exon deletion	Yes	I12b, IVS27AC28.4, EVI20(IVS27B), IVS38GT53.0 (IVS38), 3'-NF1, C7/CT1/2 (3'-UTR), EW206 (3extragenic), EW207 (3'extragenic), D17S798	NF1 and 3' flanking region	MLPA	Mitotic recombination	2/11	1
T196.24			Yes	NF1 exon 5, I12b, IVS27AC28.4, EVI20(IVS27B), IVS38GT53.0 (IVS38), 3'-NF1, C7/CT1/2 (3'-UTR), EW206 (3'extragenic), EW207 (3'extragenic)	NF1 and 3' flanking region	MLPA	Genomic deletion	2/11	1
13	Deletion exons 2 and 3	Two exon deletion	Yes	Ex5, I12b, IVS27, EVI20, IVS38,C7CT, EW206, EW207,3'NF1	NF1 and 3' flanking region	MLPA/CGH array	Genomic deletion	31/34	17
7	Ex4c: c.654 + 1G > T	Splice site	Yes	UT172, HH202, J1/J2, EVI20	NF1	MLPA/CGH array	Genomic deletion
27	Ex8: c.1133_1136delACTG; p.Asp378AlafsX7	4 bp deletion (FS)	Yes	Ex5, J1J2,3'NF1	NF1 and 3' flanking region	NIA
9	Ex11: c.1713G > A; p.Trp571X	Nonsense	Yes	D17S182, I12b, J1/J2	Intragenic NF1
10			Yes	UT172, HH202, J1/J2, EVI20, > 2.2Mb	NF1	MLPA/CGH array	Genomic deletion
23	Ex12a: c.1318C > T; p.Arg440X	Nonsense	Yes	HHH202, EVI20. IVS38	Intragenic NF1	NIA
14	Ex12a: c.1754_1757delTAAC; p.Thr586ValfsX19	4 bp deletion (FS)	Yes	IVS27, 3'NF1	NF1 and 3' flanking region	MLPA/CGH array	Mitotic recombination
12	Ex13: c.2002-14C > G	Splice site	Yes	I12b, IVS27, EVI20, IVS38, 3'NF	NF1 and 3' flanking region	MLPA/CGH array	Genomic deletion
43	Ex13: c.2041C > T; p.Arg681X	Nonsense	Yes	Determined by MLPA	NF1	MLPA	Duplication mitotic recombination	6/25	18
15	Ex16: c.2497delT; p.Ser833ProfsX7	1 bp deletion (FS)		Intragenic Deletion (Exons 1-6) MLPA	Intragenic NF1	MLPA/CGH array	Genomic deletion	31/34	17
25	Ex16: c.2705delT; p.Met902ArgfsX22	1 bp deletion (FS)	Yes	Intragenic deletion (exons1-41) MLPA	Intragenic NF1	MLPA/CGH array	Genomic deletion
17	Ex20: c.3457_3460delCTCA; p.Leu1153MetfsX3	4 bp deletion (FS)				NIA
18			Yes	3'NF1	Intragenic NF1	MLPA/CGH array	Genomic deletion
459T1	Ex21: c.3684delC; p.Asn1229MetfsX11	1 bp deletion (FS)	Yes	TP53(INTRON1), TP53(INTRON6), NF- (GATN)n INTRON26, NF-IVSAC28.4(i27b), D17S57, D17S250, D17S1301, D17S784	Whole chromosome	NIA		3/5	9
8	Ex22: c.3732delT; p.Thr1245Leufsx21	1 bp deletion (FS)	Yes	Int12, J1J2	Intragenic NF1			31/34	17
64	Ex23.1: c.3368 + 1delG	1 bp deletion at a splice site	Yes	Determined by MLPA	NF1	MLPA	Genomic deletion	6/25	18
56	Ex25: c.4276C > A; p.Gln1426Lys	Missense	Yes	Determined by MLPA	NF1	MLPA	Duplication mitotic recombination
4	Ex27a: c.4537C > T; p.Arg1513X	Nonsense	Yes	IVS27b	Intragenic NF1	MLPA/CGH array	Genomic deletion	31/34	17
6	Ex28: c.5003insTG; p.Tyr1668LeufsX7	2 bp insertion (FS)	Yes	I4b, J1J2, EVI20	NF1	MLPA/CGH array	Genomic deletion
21	Ex29: c.5234C > G; p.Ser1745X	Nonsense	Yes	Partial gene deletion	Intragenic NF1	MLPA/CGH array	Genomic deletion
19	Ex37: c.6792C > A; p.Tyr2264X	Nonsense	Yes	I12b, IVS27, J1J2, EVI20, IVS38, C7CT	NF1	MLPA/CGH array	Genomic deletion
24	Ex38: c.6961insC; p.Leu2321ProfsX5	1 bp duplication (FS)	Yes	Determined by MLPA	NF1	MLPA	Genomic deletion	6/25	18
1	Ex41: c.7268_7269delCA; p.Thr2423SerfsX2	2 bp deletion (FS)	Yes	Intron 41-30	Intragenic NF1	MLPA/CGH array	Genomic deletion	31/34	17
58	NI	NI	Yes	HHH202, NF1, EW206	Intragenic NF1		Genomic deletion	6/11	19
52	NI	NI	Yes	HHH202, NF1, EW206, EW207	Intragenic NF1		Genomic deletion
22	NI	NI	Yes	HHH202	Intragenic NF1		Genomic deletion
8	NI	NI	Yes	EW206, EW207	Intragenic NF1		Genomic deletion
2	NI	NI	Yes	p144D6, pYNZ22.1, pYNH37.3, EW503	NF1 region and some 17p		Genomic deletion	5/6	20
3	NI	NI	Yes	EW503, EW301 (B), EW301 (T)	Intragenic NF1		Genomic deletion
4	NI	NI	Yes	p144D6, pYNZ22.1, pYNH37.3, EW503, EW301 (T), pHHH202, EW207 (B), pTHH59	Whole chromosome		Genomic deletion
5	NI	NI	Yes	p144D6, pYNZ22.1, pYNH37.3, EW503, EW301 (B), EW301 (T), pHHH202, EW207 (B)	Whole chromosome		Genomic deletion
10	NI	NI	Yes	p144D6, pYNZ22.1,	NF1 region and some 17p		Genomic deletion
88-3/14	NI	NI	Yes	D17S30, TP53, D17S71, D17S8, D17S57	Whole chromosome	G-banded chromosome 17 duplication	Genomic duplication	3/9	21
88-8	NI	NI	Yes	D17S30, D17S71	NF1	NIA
88-18	NI	NI	Yes	D17S30, D17S71, D17S21, D17S33, EVI2B, D17S82	Whole chromosome
1	NI	NI	Yes	DI7S5, DI7SI, DI7SI37, CRYBI, NF1, DI7S146	NF1 and flanking regions	NIA		2/5	22
4	NI	NI	Yes	DI7S34, DI7S5, DI7S146	NF1 and flanking regions
1	NI	NI	Yes		NF1		Genomic deletion	1/1	23
1	NI	NI	Yes	NF1 alu, TP53 BHP53	Whole chromosome	NIA		3/7	24
7	NI	NI	Yes	CRYB1, NF1 alu, TP53 BHP53	Whole chromosome
8	NI	NI	Yes	D17S4, D17S74, NF1 e.31, NF1 alu	NF1
441T	NI	NI	Yes	TP53(INTRON6), D17S1863, D17twbch = S33, NF- IVSAC28.4(i27b), NF-Evi-20, NF-IVS38TG53.0, D17S1800, D17S73, D17S1301	Whole chromosome	NIA		3/5	9
396T4	NI	NI	Yes	NF-IVSAC28.4(i27b, NF-IVS38TG53.0, D17S57, D17S250, D17S1301	NF1 and 3' flanking region
2	NI	NI	Yes	NF1, P16, TP53	Whole chromosome	NIA		5/8	13
5a	NI	NI	Yes	NF1, P16, TP53	Whole chromosome
5b	NI	NI	Yes	NF1, P16, TP53	Whole chromosome
6a	NI	NI	Yes	NF1, P16, TP53	Whole chromosome
6b	NI	NI	Yes	NF1, P16, TP53	Whole chromosome
2	NI	NI	Yes	Total gene deletion	NF1	MLPA/CGH array	Genomic deletion	31/34	17
5	NI	NI	Yes	Total gene deletion	NF1	MLPA/CGH array	Genomic deletion
24	NI	NI	Yes	EVI20, IVS27, IVS38	Intragenic NF1	MLPA/CGH array	Genomic deletion
26	NI	NI	Yes	NF1 gene deletion	NF1	MLPA/CGH array	Genomic deletion
48	NI	NI	Yes	Determined by MLPA	NF1	MLPA	Genomic deletion	6/25	18
86	NI	NI	Yes	Determined by MLPA	NF1	MLPA	Genomic deletion
ACs
T65.1	Ex24: c.4267A > G; p.Lys1423Glu	Missense	Yes	NS	NF1 3' flanking region	NIA		1/1	25
57	NI	NI	Yes	EW206	Intragenic NF1	NIA		1/1	19
58	NI	NI	Yes	D17S1849, D17S1863, D17S1880	NF1 and 3' flanking region	NIA		2/4	26
76	NI	NI	Yes	D17S1863, D17S1880	NF1 and 3' flanking region
182	NI	NI	Yes	IVS27TG24.8	Intragenic NF1	NIA		11/12	27
185	NI	NI	Yes	IVS27AC28.4, IVS38GT53, D17S804	NF1 region and some 17p
187	NI	NI	Yes	IVS27AC28.4, IVS38GT53, D17S796	NF1 region and some 17p
309	NI	NI	Yes	IVS38GT53, D17S796	NF1 region and some 17p
330	NI	NI	Yes	IVS27AC28.4, IVS38GT53, D17S520, D17S796, D17S804	NF1 region and some 17p
502	NI	NI	Yes	IVS27AC28.4, D17S520, D17S796	NF1 region and some 17p
519	NI	NI	Yes	IVS27TG28.4, M98509, IVS27TG24.8, IVS38GT53	Intragenic NF1
297	NI	NI	Yes	IVS27TG28.4, M98509, IVS38GT53	Intragenic NF1
609	NI	NI	Yes	IVS27TG28.4, M98509	Intragenic NF1
20954	NI	NI	Yes	IVS27TG24.8, IVS38GT53	Intragenic NF1
20962	NI	NI	Yes	IVS27AC28.4, M98509, IVS38GT53	Intragenic NF1
1	NI	NI	Yes	Homozygous		FISH	Unknown	3/4	28
9	NI	NI	Yes	Homozygous		FISH	Genomic deletion
10	NI	NI	Yes	Homozygous		FISH	Genomic deletion
Gastric carcinoid tumours
1	Ex37: c.6841C > T; p.Gln2281X	Nonsense	Yes	IVS27TG24, D17S250	Intragenic NF1	NIA		1/1	29
GISTs
1	Ex27a: c.4537C > T; p.Arg1513X	Nonsense	Yes	D17S841, Alu, IVS27GT, IVS27CAGT, IVS38, 3'NF1-1, 3'NF1-2	NF1 and 3' flanking region	MLPA	Mitotic recombination	1/1	30
NF1-3	Ex45: c.7807delG; p.Aal2603LeufsX3	1 bp deletion (FS)	Yes	Alu, IVS27AC33.1, IVS38GT53.0, IVS27TG24.8	Intragenic NF1	Array CGH	Genomic deletion	1/7	3
JMML
D102	Ex4b: c.574C > T; p.Arg192X	Nonsense	Yes	D17S925, D17S1800, D17S1880, D17S855, D17S1827, D17S787, D17S948, D17S784	Majority of 17q	SNP array	Mitotic recombination- UPD	4/5	31
D115	Ex13: c.2066delT; p.Val689GlyfsX59	1 bp deletion (FS)	Yes	D17S925, D17S1800, D17S1880, D17S855, D17S1827, D17S787, D17S948, D17S784	Majority of 17q	SNP array	Mitotic recombination- UPD
D003	Ex22: c.3861_3862delCT; p.Cys1288ValfsX21	2 bp deletion (FS)	Yes	D17S925, D17S1800, D17S1880, D17S855, D17S1827, D17S787, D17S948, D17S784	Majority of 17q	SNP array	Mitotic recombination- UPD
D126	Ex44: c.7699C > T; p.Gln2567X	Nonsense	Yes	D17S925, D17S1800, D17S1880, D17S855, D17S1827, D17S787, D17S948, D17S784	Majority of 17q	SNP array	Mitotic recombination- UPD
1	NI	NI	Yes	D17S1975, D17S1294, UT172, NF1, D17S1800, D17S250, D17S801, D17S939, D17S836, D17S1806, D17S1822, D17S1830	Majority of 17q	FISH	Mitotic recombination- interstitial isodisomy (paternal)	10/10	32
2	NI	NI	Yes	D17S1975, D17S1294, UT172, NF1, D17S1800, D17S250, D17S801, D17S939, D17S836, D17S1806, D17S1822, D17S1830	Majority of 17q	FISH	Mitotic recombination- interstitial isodisomy (paternal)
3	NI	NI	Yes	D17S1294, UT172, NF1, D17S1800, D17S250, D17S801, D17S939, D17S836, D17S1806, D17S1822, D17S1830	Majority of 17q	FISH	Mitotic recombination interstitial isodisomy (paternal)
4	NI	NI	Yes	D17S1975, D17S1294, UT172, NF1, D17S1800, D17S250, D17S801, D17S939, D17S836, D17S1806, D17S1822, D17S1830	Majority of 17q	FISH	Mitotic recombination- interstitial isodisomy (maternal)
5	NI	NI	Yes	D17S1975, D17S1294, UT172, NF1, D17S1800, D17S250, D17S801, D17S939, D17S836, D17S1806, D17S1822	Majority of 17q	FISH	Mitotic recombination- interstitial isodisomy (maternal)
6	NI	NI	Yes	D17S1878, D17S33, D17S1975, D17S1294, UT172, NF1, D17S1800, D17S250, D17S801, D17S939, D17S836, D17S1806, D17S1822, D17S1830	Majority of 17q	FISH	Mitotic recombination- interstitial isodisomy (maternal)
7	NI	NI	Yes	D17S1294, UT172, NF1, D17S1800, D17S250, D17S801, D17S939, D17S836, D17S1806, D17S1822, D17S1830, D17S928	Majority of 17q	FISH	Mitotic recombination- interstitial isodisomy (maternal)
8	NI	NI	Yes	D17S1975, D17S1294, UT172, NF1, D17S1800, D17S250, D17S801, D17S939, D17S836, D17S1806, D17S1822, D17S1830, D17S928	Majority of 17q	FISH	Mitotic recombination- interstitial isodisomy (paternal)
9	NI	NI	Yes	NF1, D17S1800	Intragenic NF1	FISH	Genomic deletion
10	NI	NI	Yes	NF1, D17S1800	Intragenic NF1	FISH	Genomic deletion
D419	NI	NI	Yes	D17S925, D17S1841, D17S1294, D17S1863, D17S1849, D17S1166, D17S1800, D17S1880, D17S1818, D17S855, D17S1827, D17S787, D17S948, D17S785, D17S784	Majority of 17q	MLPA	Mitotic recombination- UPD	5/10	33
D561	NI	NI	Yes	D17S1294, D17S1863, D17S1849, D17S1166, D17S1800, D17S1880, D17S1818, D17S855, D17S1827, D17S787, D17S948, D17S785, D17S784	Majority of 17q	MLPA	Mitotic recombination- UPD
D378	NI	NI	Yes	D17S1294, D17S1863, D17S1849, D17S1166, D17S1800, D17S1880, D17S1818, D17S855, D17S785	Majority of 17q	Array CGH	Mitotic recombination- UPD
D341	NI	NI	Yes	D17S1849, D17S1166, D17S1800, D17S1880	NF1 and flanking regions	Array CGH	Genomic deletion
D566	NI	NI	Yes	D17S1849, D17S1166, D17S1800, D17S784	NF1 and flanking regions	Array CGH	Genomic deletion
PCs
1	NI	NI	Yes	DI7S34, DI7S137, CRYBI, NF1, DI7S4	Whole chromosome	NIA		7/7	22
2	NI	NI	Yes	CRYBI, DI7S33, NF1, DI7S55, DI7S4	NF1
3	NI	NI	Yes	DI7S5, DI7S134, DI7S58, DI7S33	Whole chromosome
4	NI	NI	Yes	DI7S33, NF1	Intragenic NF1
5	NI	NI	Yes	DI7S71, NF1, DI7S226	Whole chromosome
6L	NI	NI	Yes	DI7S5, NF1, DI7S145, DI7S226	Whole chromosome
6R	NI	NI	Yes	DI7S5, NF1, DI7S145, DI7S226	Whole chromosome
1	NI	NI	Yes	TP53-BAM, TP53 AccII, NF1-AE25 (BgIII) SNP, THH59-TaqI, THH59-PvuII	Majority of 17	NIA		2/7	34
1	NI	NI	Yes	NF1-AE25 (BgIII) SNP, THH59-TaqI, THH59- PvuII-adrenal corticoid tumour	NF1 and 3' flanking region
NS	NI	NI	Yes					14/21	35
Glomus tumours
NF1-G2	Ex42: c.7395_7404del10; p.Thr2466SerfsX33	10 bp deletion (FS)	Yes	Introns 27-38	Intragenic NF1	Array CGH	Mitotic recombination	1/7	36

CGH, comparative genomic hybridisation; array CGH, high resolution CGH; FS, frame shift; NI, not informative; WG, whole gene; NA, not available; UPD, uniparental disomy; MLPA, multiplex ligation-dependent probe amplification; FISH, fluorescent in situ hybridisation.
Supplementary Table References
1. Spurlock, G., Griffiths, S., Uff, J. and Upadhyaya, M. (2007), 'Somatic alterations of the NF1 gene in an NF1 individual with multiple benign tumours (internal and external) and malignant tumour types', Fam. Cancer Vol. 6, pp. 463-471.
2. De Raedt, T., Maertens, O., Chmara, M., Brems, H. et al. (2006), 'Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patients', Genes Chromosomes Cancer Vol. 45, pp. 893-904.
3. Maertens, O., Brems, H., Vandesompele, J., De Raedt, T. et al. (2006), 'Comprehensive NF1 screening on cultured Schwann cells from neurofi-bromas', Hum. Mutat. Vol. 27, pp. 1030-1040.
4. Thomas, L., Kluwe, L., Chuzhanova, N., Mautner, V. et al. (2010), 'Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burden', Neurogenetics Vol. 11, pp. 391-400.
5. Serra, E., Puig, S., Otero, D., Gaona, A. et al. (1997), 'Confirmation of a double-hit model for the NF1 gene in benign neurofibromas', Am. J. Hum. Genet. Vol. 61, pp. 512-519.
6. Serra, E., Ars, E., Ravella, A., Sánchez, A. et al. (2001), 'Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations', Hum. Genet. Vol. 108, pp. 416-429.
7. Serra, E., Rosenbaum, T., Nadal, M., Winner, U. et al. (2001), 'Mitotic recombination effects homozygosity for NF1 germline mutations in neu-rofibromas', Nat. Genet. Vol. 28, pp. 294-296.
8. Eisenbarth, I., Beyer, K., Krone, W. and Assum, G. (2000), 'Toward a survey of somatic mutation of the NF1 gene in benign neurofibromas of patients with neurofibromatosis type 1', Am. J. Hum. Genet. Vol. 66, pp. 393-401.
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