Identification of two novel SALL1 mutations in chinese families with townes-brocks syndrome and literature review

Table 1 Details of mutation types and renal phenotypes in different groups of TBS patients with kidney disease

Group	Mutation	RAV	Total	Gender			RF	RI	HPL	PK	VR	HSP
Group	Mutation	RAV	Total	Male	Female	Unspecified	RF	RI	HPL	PK	VR	HSP
A	Frameshift	65–448	38	21	16	1	5	14	28	4	6	4
A	Nonsense	65–448	24	11	11	2	5	9	12	3	4	5
B	Frameshift	449–499	4	3	1	0	1	1	3	1	1	0
B	Nonsense	449–499	0	0	0	0	0	0	0	0	0	0
C	Frameshift	500–705	2	0	2	0	0	0	2	0	2	0
C	Nonsense	500–705	2	0	2	0	1	0	2	0	0	0
D	Frameshift	789–1000	1	0	1	0	0	0	0	0	0	0
D	Nonsense	789–1000	0	0	0	0	0	0	1	0	0	1
E	Frameshift	1052–1156	5	4	1	0	3	0	3	1	1	0
E	Nonsense	1052–1156	0	0	0	0	0	0	0	0	0	0
F	Splicing	N/A	1	1	0	0	1	0	1	0	0	0
G	Gross deletion	N/A	2	1	1	0	2	0	0	0	1	0
H	Homozygous	N/A	2	0	2	0	1	0	1	2	0	0

RAV, The range of amino acids in which the variation occurs; N/A, Not applicable. RF, Renal failure (Patients had received renal replacement therapy or creatinine > 707µmol/L or eGFR ≤ 15ml/min/1.73m².); RI, Renal injury (the patient’s serum creatinine levels were above the normal range but didn’t meet the diagnosis of renal failure); HPL, hypoplastic; PK, Polycystic kidney; VR, Vesicoureteral reflux; HSP, hypospadias. Gross deletions are currently defined as > 20 bp, which is a crude cut-off value

ISSN: 1750-1172