Whole exome sequencing reveals novel COL4A3 and COL4A4mutations and resolves diagnosis in Chinese families with kidney disease

Table 1 Pathogenic variants identified by whole exome sequencing

Family	Samples analyzed by WES	Pathological diagnosis before WES analysis	Pathogenic variants	Zygosity	Novel or clinical	SIFT^a	PolyPhen2^b	Mutation at conserved position
1	III-1	MsPGN	COL4A4 c.G2636A (p.Gly879Glu)	Het	Novel	0.001	1.0	Yes
1	III-1	MsPGN	COL4A4 c.C4715T (p. Pro1572Leu)	Het	Clinical [18, 19]	0	1.0	Yes
2	II-4	FSGS	COL4A3 c.G2290A (p.Gly997Glu)	Het	Novel	0	1.0	Yes
3	II-2	Biopsy not performed	COL4A5 (c.687 + 1G > A)	Het	Clinical [20]	N/A	N/A	Yes

^aA SIFT score of <0.05 is predicted to be deleterious.
^bA Polyphen2 score is predicted to be “probably damaging” if it is >0.85, “possibly damaging” if between 0.85 and 0.2, and “benign” if < 0.2.
MsPGN, mesangial proliferative nephropathy; FSGS, focal segmental glomerulosclerosis; N/A, not available.

ISSN: 1471-2369