Table 1

Clinical features and WT1 mutations in patients

Patient	Age	Nephropathy onset	Renal failure	Histology	Karyotype	Genital status external & internal genitalia	Wilms tumour	WT1 mutation (exon/intron)		DNA	Amino acids
Nephropathy with genital abnormalities or Wilms tumours
Clinical Denys-Drash syndrome
1^1-150	1 y	1 y	1 y	FGS	46,XX	Female	+	Exon 8	1064	G→A	³⁵⁵Cys → ³⁵⁵Thr
2^1-150	22 y	Unclear	2 y	FGS	46,XY	Female, streak gonad	−	Exon 9	1154	T→C	³⁸⁵Cys →³⁸⁵Arg
3^1-150	5 y	Unclear	1 mth	FGS	46,XX	Female	+	Exon 8	1097	G→A	³⁶⁶Arg → ³⁶⁶His
4	7 y	Unclear	1 y	ESRD	46,XY	Female	−	Exon 7	1025	T→G	³⁴²Met → ³⁴²Arg
5	5 y	<5 y	Not followed	Not known	NE	Female	+	Exon 9	1163	G→T	³⁸⁸Cys → ³⁸⁸Phe
6	1 y	1 y 2 mth	1 y 2 mth	DMS	46,XY	Hypospadias, cryptorchidism	−	Exon 9	1186	G→A	³⁹⁶Asp → ³⁹⁶Asn
7	9 y	Unclear	11 mth	DMS	46,XY	Hypospadias, cryptorchidism	−	Exon 9	1180	C→T	³⁹⁴Arg → ³⁹⁴Trp
8^†	18 y	Unclear	7 mth	Dysplasia	46,XY	Female	−	Intron 9	+4	c→t	Disruption of splicing
9^†	18 y	7 mth	7 mth	Dysplasia	46,XY	Female	−	Intron 9	+4	c→t	Disruption of splicing
Clinical Frasier syndrome
10^1-150 ^‡	18 y	3 y	No	FGS	46,XY	Female, streak gonad	−	Intron 9	+4	c→t	Disruption of splicing
11^1-150 ^‡	18 y	3 y	No	FGS	46,XY	Female, streak gonad	−	Intron 9	+4	c→t	Disruption of splicing
12^1-150	19 y	5 y	16 y	FGS	46,XY	Female, streak gonad	−	Intron 9	+4	c→t	Disruption of splicing
13^1-150	3 y	3 y	No	Not known	46,XY	Female, streak gonad	−	Intron 9	+5	g→t	Disruption of splicing
14^1-150	26 y	6 y	23 y	FGS	46,XY	Female, streak gonad	−	Intron 9	+2	t→c	Disruption of splicing
15	19 y	6 y	12 y	FSGS	46,XY	Female	−	Intron 9	+5	g→a	Disruption of splicing
16	18 y	2 y	8 y	FSGS	46,XY	Female	−	Intron 9	+2	t→c	Disruption of splicing
Nephropathy without genital abnormalities and Wilms tumours
17	3 y	2 y	2 y	DMS	46,XY	Male	−	Exon 7	935	G→A	³¹²Arg → ³¹²Gln
18	2 y	1 y	1 y	DMS	46,XY	Male	−	−
19	7 y	2 y	2 y	DMS	46,XY	Male	−	−
20	18 y	0 y	1 y	DMS	46,XY	Male	−	−
21	3 y	2 y 8 mth	No	DMS	46,XY	Male	−	−
22	6 y	2 mth	2 mth	DMS	46,XY	Male	−	−
23	Not known	8 d	1 y 2 mth	DMS	46,XX	Female	−	−
24	18 y	2 y	4 y	FSGS	46,XX	Female, puberty(+)	−	Intron 9	+4	c→t	Disruption of splicing
25	8 y	1 y 9 mth	3 y	FSGS	NE	Female	−	−
26	13 y	7 y	8 y	FSGS	46,XX	Female	−	−
27	15 y	2 y 8 mth	7 y	FSGS	NE	Male	−	−
28	19 y	1 w	5 y 2 mth	FSGS	46,XX	Female	−	−
29	30 y	Unclear	11 y	FSGS	46,XX	Female	−	−
30	24 y	7 y	No	FSGS	NE	Male	−	−
31	11 y	4 y 6 mth	7 y	FSGS	NE	Not known	−	−
32	Not known	15 y	Not followed	FSGS	NE	Male	−	−
33	9 y	2 y 10 mth	3 y 11 mth	FSGS	46,XY	Male	−	−
34	Not known	13 y	No	FSGS	NE	Male	−	−
35	8 y	1 y 6 mth	1 y 7 mth	FSGS	NE	Male	−	−
36	4 y	1 y 7 mth	2 y 10 mth	FSGS	NE	Male	−	−
37	16 y	3 y 2 mth	4 y 4 mth	FSGS	NE	Male	−	−
38	19 y	3 y 2 mth	17 y	FSGS	NE	Male	−	−
39	9 y	3 y 1 mth	7 y 6 mth	FSGS	NE	Male	−	−
40	19 y	5 y 5 mth	7 y	FSGS	NE	Male	−	−
41	12 y	6 y 2 mth	Not followed	FSGS	NE	Male	−	−
42	5 y	3 y	No	FSGS	NE	Not known	−	−

↵1-150 Patients 1–3 and 10–14 have been reported before.9 ^†8 and 9, and ^‡10 and 11 are identical twins. FGS, focal glomerular sclelrosis; ESRD, end stage renal disease; DMS, diffuse mesangial sclerosis; FSGS, focal segmental glomerular sclerosis; NE, not examined.