Table 4

Summary of EXT gene mutations, clinical data

Mutation		Proband^4-151		Affected subjects		Clinical data				Classification
Gene	Exon	Proband^4-151		Affected subjects		cDNA change	Protein change			Type of mutation	Mutation reported^4-150	Onset (years)	No of exostoses	Vertebral location	Functional rating	Stature (centile)	Chondro sarcoma	Variable expressiv	Type M/S
EXT1	Exon 1	42delG	G15	Frameshift	−	A1-1	2	8	6	+	Fair	3	−	+		III/IV S
EXT1	Exon 1	248 insC	R83	Frameshift	1	A1-2	9	2	17	+	Fair	50	−	+		III S
EXT1	Exon 1	C250T	Q84X	Nonsense	−	A1-3	5	1	40	+	Fair	3	−	+		II/III/IV S
EXT1	Exon 1	352insC	V118	Frameshift	−	A1-4	6	2	10	−	Good	<3	−	+		IV S
EXT1	Exon 1	458 delTC	L153	Frameshift	−	A1-5	4	3	12	−	Fair	3	+	+		IV S
EXT1	Exon 1	460del2T	F154	Frameshift	−	A1-6	8	9	15	+	Fair	50	+	+		III S
EXT1	Exon 1	477delTA	D160	Frameshift	−	A1-7	18	<1	>40	+	Fair	<3	+	+		II/III/IV S
EXT1	Exon 1	515delA	H172	Frameshift	−	A1-8	6	1	20	−	Fair	25	−	+		I S
EXT1	Exon 1	549delGT	S180	Frameshift	−	A-9	5	4	30	−	Fair	25	−	+		II S
EXT1	Exon 1	679delC	R227	Frameshift	−	A1-10	9	2	20	−	Fair	25	−	+		I S
EXT1	Exon 1	712delT	S238	Frameshift	−	A1-11	4	2	30	−	Fair	3	−	+		II/IV S
EXT1	Exon 1	712delT	S238	Frameshift	−	A1-12	6	3	17	+	Fair	50	−	Anticip		III S
EXT1	Exon 2	C1018T	R340C	Missense	7	A-13	7	5	17	+	Fair	75	−	+		III S
EXT1	Exon 2	C1018T	R340C	Missense	+	A2-14	9	4	<10	−	Fair	50	−	−		M
EXT1	Exon 2	C1018T	R340C	Missense	+	A2-15	2	5	10	+	Fair	50	+	+		III S
EXT1	Exon 4	1370delT	T424	Frameshift	−	A4-16	5	3	20	−	Fair	75	−	+		I S
EXT1	Intron 5	G1417A		Splice site	1	A′5-17	7	1	12	+	Fair	75	+	−		IIIS
EXT1	Exon 6	1431insT	S478	Frameshift	1	A6-18	7	1	12	+	Fair	50	−	+		III S
EXT1	Exon 6	1469delT	L490	Frameshift	7	A6-19	3	1	22	−	Fair	50	−	Anticip		I S
EXT1	Exon 6	1469 delT	L490	Frameshift	+	A6-20	2	6	10	−	Good	25	−	+		M
EXT1	Exon 7	1568delT	L523	Frameshift	−	A7-21	12	2	15	−	Fair	25	−	+		I S
EXT1	Exon 8	1642delA	S548	Frameshift	−	A8-22	2	<1	40	−	Fair	25	−	+		II S
EXT1	Exon 9	G1745A	W582X	Nonsense	−	A9-23	13	<1	20	+	Fair	25	−	+		III S
EXT1	Exon 9	G1744A	W582X	Nonsense	−	A9-24	12	<1	30	−	Fair	25	+	+		II S
EXT1	Exon 9	1773delg	G591	Frameshift	−	A9-25	6	2	10	−	Fair	10	−	+		I S
EXT1	Exon 9	C1776A	Y592X	Nonsense	−	A9-26	4	2	10	−	Fair	75	−	−		I S
EXT1	Exon 9	1784delGC	R595	Frameshift	−	A9-27	2	2	30	−	Fair	50	+	−		II S
EXT1		NI				AX-28	9	6	30	−	Fair	25	−	+		II S
EXT1		NI				AX-29	5	2	40	+	Fair	50	−	+		II/III S
EXT2	Exon 2	C514T	Q172X	Nonsense	3	B2-30	5	3	10	−	Good	50	−	−		M
EXT2	Exon 2	G537C	R180T	Missense	−	B2-31	5	8	10	−	Good	50	−	−		M
EXT2	Exon 3	G580T	G193X	Nonsense	−	B3-32	10	10	30	+	Fair	75	−	Anticip		II/III S
EXT2	Exon 3	624delC	D208	Frameshift	−	B3-33	2	2	20	−	Fair	50	−	Anticip		I S
EXT2	Exon 4	G679A	D227N	Missense	2	B4-34	4	2	5	−	Good	50	−	−		M
EXT2	Exon 5	C772T	Q258X	Nonsense	−	B5-35	6	?	?	?	?	?	?	?
EXT2	Exon 7	1104insGA	E368	Frameshift	−	B7-36	6	5	9	−	Fair	75	−	−		M
EXT2	Intron 7	1173+G	R360	Splice site	2	B7-37	6	1	12	−	Fair	50	−	−		I S
EXT2	Exon 8	T1257A	Y419X	Nonsense	−	B8-38	5	<1	20	−	Fair	25	−	−		I S
EXT3						C-39	8	4	8	−	Fair	50	−	+		M
Un						D-40	2	1	10	−	Fair	10	−	−		I S
Un						D-41	2	6	30	−	Fair	25	−			II S
Un						D-42	10	?	?	?	?	?	?	?

Un = unknown. NI = none identified.
↵4-150 Mutations previously reported.23
↵4-151 A = EXT1 locus, B =EXT2 locus, C =EXT3 locus, D = unknown locus. The first number corresponds to exon and the second number refers to family.