. 1997 Apr 15;94(8):3972–3977. doi: 10.1073/pnas.94.8.3972

Table 2.

Clinical and molecular features of patients with WT1 alterations

Patient	sex	Clinical features	Tumor age at diagnosis	Pathology	Tumor LOH	Location of mutations			Mutation	Effect on protein (codon)	c/t
Patient	sex	Clinical features	Tumor age at diagnosis	Pathology	Tumor LOH	ex/in	nt	Codon	Mutation	Effect on protein (codon)	c/t
9464	m	Normal	bl/3 mo	stage V, tri	LOH	ex1a	408–436	10–20	del 29 bp	Stop ex1b (89)	c
9200	f	Normal	bl/15 mo	st V; l: s, r, tri	LOH	ex1b	746–771	123–131	del 26 bp	Stop ex2 (178)	c
9184	m	ul testicular aplasia	ul/12 mo	stage I, s	LOH	ex1b	787–793	137–139	del 7 bp	Stop ex3 (217)	c
9094	f	Normal	ul/30 mo	stage III, b	HT	ex2	919	181	C → T	Pro → Ser	c
9614	f	Normal	ul/29 mo	stage III, s	HT	ex5	1136	253	G → C	GLY → Ala	c
9177	m	Normal	ul/30 mo	stage I, s	HT	ex6	1192	272	ins TACG	Stop ex6 (276)	t
9274	m	amb ext	ul/9 mo	stage I, s	LOH	in6	+1	—	G → C	Stop ex7 (306	c
9595	m	Hypospadias	ul/7 mo	stage I, s	ND^*	in6	+2	—	T → G	?	c
HDWT6	f	Normal	ul/19 mo	stage III, stand	ND^*	ex7	1279	301	C → T	Arg → Stop	c
HDWT7	f	Normal	bl/18 mo	stage V, tri	ND^*	ex7	1279	301	C → T	Arg → Stop	c
9385	m	Normal	ul/12 mo	stage II, s	LOH	ex7	1279	301	C → T	Arg → Stop	t
9394	f	Normal	ul/8 mo	stage III, s	LOH	ex7	1297–1312	307–312	del 16 bp	Stop ex9 (380)	t
9318	f	Normal	bl/7 mo	stage V, s	LOH	ex7	1316	313	C → A	Ser → Stop	c
9561	m	Normal	ul/34 mo	stage II, s	HT	ex7	1316	313	C → A	Ser → Stop	c
						ex8	1494	372	ins GA	Stop ex9 (380)	t
HDWT8	m	mald testis, prot	u/24 mo	stage I, s	ND^*	ex9	1546	390	C → T	Arg → Stop	c
HDWT2	m	Hypospadias, crypt	ul/87 mo	stage II, s	ND^*	del WT1			del 1300 kb		c
ANS1	m	WAGR	ul/23 mo		ND^*	del WT1			del 1800 kb		c
ANS2	m	WAGR	ul/21 mo	stage II, tri	HEM	del WT1			del 1700 kb		c
ANS3	m	WAGR	ul/20 mo	stage I, s	HEM	del WT1			del 11p13		c

Patient descriptions and details on all alteratons. c, constitutional and t, tumor specific alteration. HT, heterozygous; HEM, hemizygous; amb ext, ambigious external genitalia; mald, maldescended; prot, proteinuria; crypt, cryptorchidism; del, deletion; ins, insertion. All other abbreviations are described in legend of Table 1.

ND, no tumor was available for LOH analysis.