NPHS2 mutations account for only 15 % of nephrotic syndrome cases

BMC Medical Genetics

Table 1 Clinical data of SRNS patients with NPHS2 and NPHS1 alterations

Patient number	Gender	Sporadic/ familial^a	Age at onset (years)	Renal Biopsy^b	Age of onset to CKD - V (Yes/No)^c	Age of transplant (Yes/No)	NPHS2
					Age of onset to CKD - V (Yes/No)^c	Age of transplant (Yes/No)	Nucleotide change	Effect on coding	Ref.
					(years)	(years)	Nucleotide change	Effect on coding	Ref.
Steroid Resistant cases with two NPHS2 heterozygous alterations
P6	F	spo	12	FSGS	Yes/15	Yes/15	c.686G > A	p.Arg229Gln	[37]
P6	F	spo	12	FSGS	Yes/15	Yes/15	c.851C > T	p.Ala284Val	[10]
P67	F	spo	2.2	DMP	No	No	c.686G > A	p.Arg229Gln	[37]
P67	F	spo	2.2	DMP	No	No	c.928G > A	p.Glu310Lys	[38]
P103	F	fam	1.2	FSGS	No	No	c.714delG	p.Lis239Argfs*13	ps
P103	F	fam	1.2	FSGS	No	No	c.779 T > A	p.Val260Glu	[12]
P154	M	fam	13	FSGS	No	No	c.686G > A	p.Arg229Gln	[37]
P154	M	fam	13	FSGS	No	No	c.851C > T	p.Ala284Val	[10]
Steroid Resistant cases with one NPHS2 heterozygous alteration
P111	F	spo	3	FSGS	No	No	c.-164C > T	-	ps
P68	M	spo	4	CO	No	No	c.-196C > G	-	ps
P85	M	spo	6.11	CO	Yes/8	Yes	c.-537_-531delCTTTTTT	-	[40]
P72	M	fam	16	FSGS	Yes/18	Yes/18	c.686G > A	p.Arg229Gln	[37]

^aSpo: sporadic; Fam: familial;^bFSGS:focal segmental glomerular sclerosis; DMP: diffuse mesangial proliferation; CO: complex = minimal change disease or diffuse mesangial proliferation or focal segmental glomerular sclerosis; CKD: ^cchronic kidney disease; n.a.: not analyzed; nd: not determined

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