Table 3 Genetic and epigenetic alterations in IGF2 (11p15) and WT1 (11p13) loci in 34 patients with Wilms tumours of familial or de novo WT1 mutations

From: A high incidence of WT1 abnormality in bilateral Wilms tumours in Japan, and the penetrance rates in children with WT1 germline mutation

Tumour	Age/sex	*IGF2*	*WT1* allele 1	*WT1* allele 2	Malformations/laterality	Heredity	References
Children inherited small *WT1* mutations from their fathers ( n =9)
FWT1	7 months/F	pUPD (C, M)	ex 9, 1168C>T/R390X	The same as allele 1, UPD11pt-11cen	OD, FGS/BWT	Father had a WT1 mutation and a history of WT	Present study (BWT23)
FWT2-1	1 year 4 months/M	pUPD (C)	ex 9, 1168C>T/R390X	The same as allele 1, UPD11pt-11cen	GU/UWT	Father had a WT1 mutation and no history of WT	Present study (UWTG2)
FWT2-2	1 year 7 months/F	pUPD (C)	ex 9, 1168C>T/R390X	The same as allele 1, UPD11pt-11cen	None/BWT	Father had a WT1 mutation and no history of WT	Present study (BWT25)
FWT3	3 years/M	NE	ex 6, 847delG/H291fs306X	LOH at WT1 sequences	None/UWT	Father had a WT1 mutation and a history of WT	Pelletier et al, 1991
FWT4-1	<12 months/F	NE	NE	NE	None/UWT	Father had a WT1 mutation and no history of WT	Kaplinsky et al, 1996
FWT4-2	4 months/F	NE	ex 8, 1084C>G/R302X	LOH at WT1 sequences	None/BWT	Father had a WT1 mutation and no history of WT	Kaplinsky et al, 1996
FWT4-3	6 months/F	NE	NE	NE	None/WT	Father had a WT1 mutation and no history of WT	Kaplinsky et al, 1996
FWT5	1 year 4 months/F	NE	ex 3, S223N	NE	None/UWT	Father had a WT1 mutation and no history of WT	Jeanpierre et al, 1998
FWT6-1	1 year 1 month/F	NE	ex 8, R366P	NE	CNS/UWT	Father had a WT1 mutation and no history of WT	Fencl et al, 2012
FWT6-2^a	5 months	NR	ex 8, R366P	NR	CNS	Father had a WT1 mutation and no history of WT	Fencl et al, 2012
Children inherited small *WT1* mutations from their mothers ( n =6)
FWT7-1	2 years/F	NE	ex 7, del7bp/H319fs377X	ex 7, 26 bp deletion	None/UWT	Mother had a WT1 mutation and no history of WT	Pritchard-Jones et al, 2000
FWT7-2	4 years/M	NE	ex 7, del7bp/H319fs377X	del(11)(p13p13)	None/UWT	Mother had a WT1 mutation and no history of WT	Pritchard-Jones et al, 2000
FWT8-1	9 years/F	NE	ex 10, 1730A>G/X450W	NE	Renal failure/UWT	Mother had a WT1 mutation and no history of WT	Zirn et al, 2005
FWT8-2	17 years/M	NR	ex 10, 1730 A>G/X450W	NR	None	Mother had a WT1 mutation and no history of WT	Zirn et al, 2005
FWT9	6 years/M	NR	ex 1, 328C>A/Y109X	NR	GU	Mother had a WT1 mutation and a history of WT	Regev et al, 2008
FWT10	1 year 11 months/M	NE	ex 7, 983delC/P328fs380X	Wild type	GU/UWT	Mother had a WT1 mutation and a history of WT	Melchionda et al, 2013
Children inherited large *WT1* deletions from their fathers or mothers ( n =7)
F11-1	2 years/F	NE	del(11)(p13p13)	NE	AN, GU, MR/UWT	Father had ins(14;11)(q23;p12p14)	Lavedan et al, 1989
F11-2	4 years/M	NR	del(11)(p13p13)	NR	AN, GU	Father had ins(14;11)(q23;p12p14)	Lavedan et al, 1989
FWT12-1	1 year 11 months/M	NE	NE	NE	AN/WT	Mother had ins(2;11)(q23;p12p14)	Yunis and Ramsay, 1980
FWT12-2	1 year 3 months/M	NE	del(11)(p13p14)	NE	AN, GU/BWT	Mother had ins(2;11)(q23;p12p14)	Yunis and Ramsay, 1980
FWT13-1	17 years/M	NR	del(11)(p12p14)	NR	MR	Mother had ins(16;11)(p13;p12p14)	Kousseff and Agatucci, 1981
FWT13-2	6 months/M	NE	del(11)(p12p14)	NE	GU/UWT	Mother had ins(16;11)(p13;p12p14)	Kousseff and Agatucci, 1981
FWT14	NI	NE	del(11)(p12p14)	NE	AN, GU/UWT	Mother had ins(12;11)(p12;p12p14.2)	Nakagome et al, 1984
Children with *de novo* large *WT1* deletions of paternal or maternal germ cell origin, included in the penetrance analysis ( n =8)
DNWT1	NI	NR	del(11)(p13p14.1)	NR	AN, GU	de novo deletion of paternal germ cell origin	Huff et al, 1990
DNWT2	NI	NE	del(11)(p13p13)	NE	AN/WT	de novo deletion of paternal germ cell origin	Huff et al, 1990
DNWT3	NI	NE	del(11)(p11.2p14.1)	NE	AN/WT	de novo deletion of maternal germ cell origin	Huff et al, 1990
DNWT4	NI	NE	del(11)(p13.4p14.3)	NE	AN/WT	de novo deletion of paternal germ cell origin	Huff et al, 1990
DNWT5	NI	NE	del(11)(p12p15.1)	NE	AN/WT	de novo deletion of paternal germ cell origin	Huff et al, 1990
SNWT6	NI	NE	del(11)(p12p15)	NE	AN, GU/WT	de novo deletion of paternal germ cell origin	Huff et al, 1990
DNWT7	NI	NR	del(11)(p12p15.1)	NR	AN	de novo deletion of paternal germ cell origin	Huff et al, 1990
DNWT8	NI	NR	del(11)(p13p14.1)	NR	AN, GU	de novo deletion of paternal germ cell origin	Huff et al, 1990
Patients with *de novo* small *WT1* mutation of paternal germ cell origin, not included in the penetrance analysis ( n =4)
DNWT9-1	1 year 6 months/F	UPD^b	ex 1, 144C>A/Y48X	The same as allele 1, UPD11pt-11cen	None//UWT	de novo mutation of paternal germ cell origin	Present study (UWTG1)
DNWT9-2	1 year 8 months/F	pUPD (C, M)	ex 1, 144C>A/Y48X	The same as allele 1, UPD11pt-11cen	None//BWT	de novo mutation of paternal germ cell origin	No. 36 (Haruta et al, 2008)/BWT24
DNWT10	NI	LOH on 11p15	ex 8, H377R	LOH on 11p13	Drash syndrome/UWT	de novo mutation of paternal germ cell origin	Nordenskjold et al, 1994
DNWT11	NI	LOH on 11p15	ex 9, D396N	LOH on 11p13	Drash syndrome/UWT	de novo mutation of paternal germ cell origin	Nordenskjold et al, 1994

Abbreviations: AN=aniridia; BWT=bilateral WT; C=methylation analysis of CTCF6 by COBRA; CNS=congenital nephrotic syndrome; COBRA=combined bisulfite restriction assay; ex=exon; F=female; FGS=focal glomerular sclerosis; FWT=familial WT; GU=genitourinary malformation; LOH=loss of heterogeneity; M=male; M=methylation analysis of H19-DMR by MS-MLPA; MR=mental retardation; NI=not informative; NR=not relevant; NE=not examined; OD=ovarial dysgenesis; pUPD=paternal UPD; UPD=uniparental disomy; UWT=unilateral WT; WT=Wilms tumour.
^aFWT6-2 was excluded from the penetrance analysis because of the reason described in the text.
^bAbove UPD indicates that the methylation status of H19-DMR was not examined.

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Table 3 Genetic and epigenetic alterations in IGF2 (11p15) and WT1 (11p13) loci in 34 patients with Wilms tumours of familial or de novo WT1 mutations

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