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Table 2 Clinical characteristics of patients with homozygous and compound heterozygous non-synonymous NPHS2 variants

From: NPHS2variation in focal and segmental glomerulosclerosis

Proband screened

Ethnicity

Homozygous or

Compound heterozygous

Previously published as disease causing

Affected family members

Age of onset (years)

Response to immunosuppressive treatment

Tx/

Recurrence

FG-HU-11S

Sri-Lanken

p.V127W/p.V127W

No

FG-HU-11

4

NA

NA

FG-FW-12 F

Caucasian

p.R138Q/p.R138Q

[8, 1215, 17, 18]

FG-FW-12

FG-FW-11

FG-FW-13

FG-FW-14

4

8

4

2

No

No

No

No

Yes/No

Yes/No

Yes/No

No

FG-HN-11F

Caucasian

p.R138Q/p.Q215X

No

FG-HN-11

FG-HN-111

8

1.08

No

No

Yes/No

No

FG-EJ-2112F

Caucasian

p.R138Q/p.R229Q

[6]

FG-EJ-2112

FG-EJ-2115

FG-EJ-2116

5

3

3

NA

No

No

No

Yes/Yes

Yes/Yes

FG-IV-11F*

Caucasian/Lebanese

p.V180M/p.V180M

[12]

FG-IV-11

FG-IV-12

14

17

Partial

NA

No

NA

UNC-530S

NA

p.R229Q/p.R10T

No

UNC-530

18

NA

NA

CPMC-93S

Caucasian

p.R229Q/p.L270F

No

CPMC-93

38

Partial

NA

FG-HP-11S

Hispanic

p.R229Q/p.A284V

[8, 15, 17, 19]

FG-HP-11

FG-HP-12

17

NA

No

No

No

Yes/No

CPMC-2S

Hispanic

p.R229Q/p.A284V

[8, 15, 17, 19]

CPMC-2

21

NA

NA

CPMC-6S

Caucasian

p.R229Q/p.A284V

[8, 15, 17, 19]

CPMC-6

27

NA

NA

ST-11S

Caucasian

p.R229Q/p.L327F

[6]

ST-11

3

No

NA

CPMC-28S

Caucasian

397delA/855/6delAA

No

CPMC-28

27

No

NA

  1. F; individual with at least one other affected family member with FSGS or proteinuria, F*; individual with at least one other affected family member from a consanguineous marriage with FSGS or proteinuria, S; patient without a family history of FSGS NA; data not available.