Skip to main content

Advertisement

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.