Familial WT1-associated nephropathy - 46, XY Frasier syndrome and 46, XX steroid-resistant nephrotic syndrome in female siblings: A case report and review of literature

Table 1 Reported cases of Wilms tumor 1-associated syndromes with genotype-phenotype

Ref.	WT1-mutation type	Phenotype	Karyotype	Renal pathology	Syndrome
Barbaux et al[9], 1997	IVS9+1G>A and IVS9+5G>A splice-site	Female	46, XY	FSGS, SRNS, gonadal dysgenesis	Frasier syndrome
Klamt et al[13], 1998	IVS9+5G>A splice-site	Females	46, XY and 46, XX	FSGS, SRNS	Frasier syndrome
Guaragna et al[14], 2012	WT1 IVS9+5G>A (cases 1-3), IVS9+1G>A	Female	46, XY	FSGS, SRNS, ESRF, puberty, dysgerminoma, streak gonads	Frasier syndrome
Dattolo et al[15], 2013	Exon 6 truncating (c.1012A>T, p.R338X)	Female	46, XX	FSGS, Gonadoblastoma	Atypical WT1-related syndrome
Ahn et al[16], 2017	Exon 7-9 missense and Intron 9 splice	Female and male	46, XY (Predominantly, 46, XX	FSGS, SRNS, DSD and ESRD	Denys-Drash syndrome
Akramov et al[17], 2021	Exon 7 (chr11:32417947G>A),	Male	46, XY	Nephroblastoma, ambiguous genitalia	Variant of Denys-Drash syndrome
Wang et al[18], 2021	Exon 7 novel missense (c.1420C>T, p.His474 Tyr)	Female	46, XY	Gonadoblastoma, dysgerminoma	Denys-Drash syndrome
Zhang et al[19], 2022	intron 9 of, c.1432+5G>A splice-site	Female	46, XY	FSGS, SRNS and pulmonary dysplasia	Frasier syndrome
Arroyo-Parejo et al[20], 2022	WT1	Female	46, XY	ESKD, abnormalities of the male external genitalia	Frasier syndrome
Shao Q, et al[21], 2023	WT1 intron 9 mutation (c.1447+4C>T)	Female	46, XY	SNRS with progressive nephropathy	Frasier syndrome
Al Zabali et al[22], 2024	WT1 mutations	Female and male	46, XY and 46, XX	ESRF, thrombotic microangiopathy	WT1-associated atypical hemolytic uremic syndrome
Tran Thuy et al[23], 2024	p.Arg467Gln exon 9 missense	Female and male (Neonate)	46, XY and 46, XX	ESRD within the first month of their life	Aggressive Denys-Drash syndrome variant
McTaggart SJ et al[28], 2001	T1 c.1447+4C>T (intron 9)	Female	46, XY	FSGS	Frasier syndrome
Chan et al[24], 2006	WT1 intron 9 mutation (c.1447+4C>T)	Female and male	46, XY	FSGS, SRNS, progressed to ESRD	Frasier syndrome

WT1: Wilms tumor 1; ESRD: End-stage renal disease; ESRF: End-stage renal failure; ESKD: End-stage kidney disease; FSGS: Focal segmental glomerulosclerosis; SRNS: Steroid-resistant nephrotic syndrome; DSD: Disorders or differences of sex development.