Table 2.

Description of genetic diagnosis of NUP93 gene mutations in 11 different families with SRNS, gene locus detected with variations, and some clinical features.

Family/individual	Nucleotide change	Amino acid change	Zygosity	Exon	Gender	Ancestry	Onset/ ESRD year	Proteinuria	Haematuria	Edema	Hypertension	Extrarenal manifestation/DS	Renal biopsy	Therapy/response	RTX	Ref
No.1	c.1162 C>T /c.1772G>T	p.A388T /p.G591V	Het	Ex11/16	Female	Serbian	6 yr/6 years	Y	Y	Y	UK	N	FSGS	RTX /HK	Y	[20]
No.2	c.1326delG /c.1772G>T	p.L442A /p.G591V	Het	Ex12/16	Female	German	3 yr/3 yr	Y	Y	Y	UK	N	FSGS	CSA/PR	Y	[20]
No.3	c.1537+1G>A /c.1772G>T	del exon13/p.G591V	Het	Ex13/16	Female	German	3 yr/4 yr	Y	Y	Y	UK	MG-syndrome	FSGS	SRNS	Y	[20]
No.4	c.1772G>T	p.G591V	Hom	Ex16	Male	Turkish	3 yr/11 yr	Y	Y	Y	UK	N	FSGS	SRNS	N	[20]
No.5	c.1886A>G	p.T629C	Hom	Ex17	Male	Turkish	1 yr/ 1 yr	Y	Y	Y	UK	N	FSGS	SRNS	Y	[20]
No.6	c.1772G>T /c.1298delA	p.G591V/ p.D433A	Het	Ex16/12	Female	Czsk	3 yr/ 3.5 yr	Y	UK	Y	UK	N	FSGS	ESRD	Y	[21]
No.7	c.1772G>T/c.1916 T>C	p.G591V/ p.L639P	Het	Ex16/18	Male	Czsk	1.8 yr/ 2.9 yr	Y	UK	Y	UK	N	FSGS	CSA/ESRD	Y	[21]
No.8	c.2084T>C/c.2267T>C	p.L695S/ p.L756S	Het	Ex19/21	Male	White	6.1 yr/ 12 yr	Y	UK	UK	UK	UK	UK	SRNS	UK	[22]
No.9	c.1573C>T/c.1886A>G	p.R525W/ p.Y629C	Het	Ex14/17	Female	Japanese	4 yr/ 6 yr	Y	Y	Y	Y	RA	FSGS	SRNS	Y	[23]
No.10	c.575A>G/c. 1605C>G	p.T192C/ p.Tyr535Ter	Het	Ex7/14	Female	American	5 yr/ 5 yr	Y	Y	Y	UK	CM, AF	UK	SRNS	Y	[13]
New report	c.1655A>G/c.1732C>T	p.T192C/ p.Tyr535Ter	Het	Ex14/15	Male	Chinese	0.6 yr/ 0.8 yr	Y	Y	Y	Y	N	UK	SRNS	N	[∗]

AF = autistic features, CM = cardiomyopathy, CSA = cyclosporin A, CZSK = Czech and Slovak, DS = dysmorphic-syndrome, ESRD = end stage renal disease, Ex = Exon, HK = hyperechogenic kidneys, MG = Marcus-Gunn, N = No, PR = partial response, RA = rheumatoid arthritis, Ref = reference, RTX = renal transplantation, UK = unknown, Y = Yes.

^∗The present case.