Novel mutation in the SALL1 gene in a four-generation Chinese family with uraemia: A case report

Table 1 Details of SALL1 gene variations in 76 patients diagnosed with Townes-Brocks syndrome with renal manifestations

Genetic finding	F/N	Gender	Phenotype						Ref.
			BRA	URA	PK	VR	RF	RFI
c.313delA	FA/N1	F	0/1	0/1	0/1	0/1	0/1	1/1	[7]
c.419delC	FA/N1	M	0/1	1/1	0/1	0/1	0/1	1	[15]
c.764delT	FA/N1	M	0/1	0/1	1/1	0/1	1/1	0/1	[3]
c.792delGC	FA/N2	M/F	0/2	1/2	0/2	2/2	0/2	0/2	[16]
c.817delG	FA/N1	M	0/1	1/1	0/1	0/1	1/1	0/1	[17]
c.981insTGGC	FA/N1	M	0/1	1/1	0/1	0/1	0/1	1/1	[18]
c.995delC	FA/N1	M	1/1	0/1	0/1	0/1	0/1	0/1	[7]
c.1047dupC	FA/N1	M	0/1	0/1	0/1	1/1	0/1	0/1	[7]
c.1119del79	FA/N1	F	1/1	0/1	0/1	0/1	1/1	0/1	[7]
c.1134delT	FA/N1	F	0/1	1/1	0/1	0/1	0/1	0/1	[7]
c.1145insTA	FA/N1	M	0/1	0/1	1/1	0/1	0/1	1/1	[3]
	FB/N1	M	0/1	1/1	0/1	0/1	0/1	0/1	[7]
c.1146delT	FA/N3	2F/M	0/3	2/3	0/3	0/3	0/3	3/3	[15]
c.1174delCT	FA/N1	M	0/1	1/1	0/1	0/1	0/1	0/1	[7]
c.1200del7	FA/N1	M	1/1	0/1	0/1	0/1	1/1	0/1	[15]
c.1263delC	FA/N1	F	1/1	0/1	0/1	0/1	1/1	0/1	[3]
c.1273delC	FA/N1	M	0/1	1/1	0/1	0/1	0/1	0/1	[7]
c.1277del2bp	FA/N1	F	0/1	0/1	0/1	0/1	0/1	1/1	[15]
c.1291del10	FA/N2	2M	2/2	0/2	0/2	0/2	0/2	2/2	[15]
c.1321dupA	FA/N1	F	0/1	1/1	0/1	0/1	0/1	1/1	[3]
c.1327delG	FA/N2	M/?	1/2	1/2	0/2	0/2	0/2	0/2	[3]
c.1347delCA	FA/N1	M	1/1	0/1	0/1	0/1	0/1	0/1	[19]
c.1404dupG	FA/N9	4F/5M	3/9	3/9	0/9	2/9	2/9	1/9	[3]
c.1451del7insT	FA/N1	M	0/1	1/1	0/1	0/1	1/1	0/1	[18]
c.1470delG	FA/N1	M	0/1	0/1	0/1	1/1	0/1	1/1	[20]
c.1487del562	FA/N1	M	0/1	1/1	0/1	0/1	0/1	0/1	[19]
c.1516dupAT	FA/N2	2M	2/2	0/2	0/2	2/2	0/2	0/2	[7]
c.1819delG	FA/N3	2F/M	2/3	0/3	0/3	1/3	1/3	1/3	[21]
c.3249del7	FA/N1	M	1/1	0/1	0/1	1/1	0/1	0/1	[7]
c.3414delAT	FA/N1	M	0/1	1/1	0/1	0/1	0/1	0/1	[7]
	FB/N1	M	0/1	0/1	0/1	1/1	0/1	0/1	[22]
Total (%)	F31N47	15F/31M/1?	16/47 (34)	18/47 (38)	2/47 (4)	11/47 (23)	9/47 (19)	14/47 (30)
p.Gln272X	FA/N1	M	0/1	1/1	0/1	0/1	0/1	0/1	[7]
p.Leu275X	FA/N1	M	0/1	0/1	0/1	1/1	0/1	0/1	[12]
p.Arg276X	FA/N2	/	1/2	0/2	0/2	0/2	1/2	0/2	[19]
	F B/N1	F	1/1	0/1	0/1	0/1	0/1	0/1	[23]
	F C/N3	3M	0/3	0/3	0/3	0/3	1/3	2/3	[24]
	FD/N2	2M	0/2	1/2	1/2	0/2	0/2	1/2	[15]
	FE/N1	F	0/1	1/1	0/1	0/1	0/1	1/1	[25]
	FF/N1	F	0/1	1/1	0/1	0/1	0/1	0/1	[26]
P.Gln243X	FA/N2	F	2/2	0/2	0/2	0/2	2/2	0/2	[10]
p.Gln323X	FA/N2	2M	1/2	0/2	0/2	1/2	2/2	0/2	[3]
p.Ser371X	FA/N1	M	1/1	0/1	0/1	1/1	0/1	1/1	[3]
p.Ser372X	FA/N2	M/F	0/2	1/2	0/2	1/2	0/2	0/2	[17]
p.Lys419X	FA/N2	2F	2/2	0/2	0/2	0/2	1/2	0/2	[3]
	FB/N2	2F	0/2	2/2	0/2	0/2	0/2	0/2	[27]
p.Tyr503X	FA/N1	F	1/1	0/1	0/1	0/1	0/1	0/1	[21]
p.Gln507X	FA/N1	F	1/1	0/1	0/1	0/1	1/1	0/1	[3]
p.Gln927X	FA/N1	M	0/1	0/1	0/1	1/1	0/1	0/1	[3]
p.Arg1054X	FA/N1	F	0/1	0/1	1/1	0/1	0/1	1/1	[28]
Total (%)	F17/N27	13F/12M/2?	10/27 (37)	7/27 (26)	2/27 (7)	5/27 (18)	8/27 (30)	6/27 (22)
del 3384 dp	FA/N1	F	0/1	0/1	0/1	1/1	1/1	0/1	[3]
IVS2/19T	FA/N1	M	1/1	0/1	0/1	0/1	1/1	0/1	[21]
Total (%)	F51/N76	29F/44M/3?	25/76 (33)	25/76 (33)	4/76 (5)	17/76 (22)	17/76 (22)	20/76 (26)

BRA: Bilateral renal agenesis; URA: Unilateral renal agenesis; PK: Polycystic kidney; VR: Vesicoureteral reflux; RF: Renal failure; RFI: Renal function impaired; F/N: Family/number of the patients.