Table 1.
Reported pathogenic PAX2 SNVs in familial FSGS
| Ref | Self-reported ethnicity | Familial or individual case | DNA change | Amino acid change | Age at presentation, years | Diagnosis | Biopsy-proven | CAKUT |
|---|---|---|---|---|---|---|---|---|
| Barua [11] (2014) | White | F | c.491C>A | p.Thr164Asn | 8 | FSGS | Yes | None |
| Barua [11] (2014) | African American | F | c.239C>T | p.Pro80Leu | 7–11 | Proteinuria | Unknown | None |
| Barua [11] (2014) | European | F | c.565G>A | p.Gly189Arg | 17–68 | FSGS | Yes | Bilateral pelvis |
| Barua [11] (2014) | Unknown | F | c.398C>T | p.Ser133Phe | Unknown | Proteinuria | Yes | None |
| Barua [11] (2014) | Middle Eastern | F | c.167G>A | p.Arg56Gln | 36 | FSGS | Unknown | None |
| Barua [11] (2014) | East Indian | F | c.448A>G | p.Thr150Ala | 31–32 | FSGS | Yes | None |
| Barua [11] (2014) | European America | F | c.310C>T | p.Arg104* | 15–24 | FSGS | Yes | Papillorenal syndrome |
| Vivante [12] (2019) | Arab | F | c.69-70InsG | p.Val26Glyfs*28 | 1 | FSGS | Yes | Coloboma, cardiomyopathy, microcephaly |
| Vivante [12] (2019) | Egypt | F | c.254G>T | p.Gly85Val | 10–35 | FSGS | Yes (2/3) | None |
| Vivante [12] (2019) | European | F | c.862-1G>A | Splice variant | 20 | FSGS | Yes (1/2) | None |
| Vivante [12] (2019) | European | F | c.275C>T | p.Thr92Met | 18 | FSGS | Yes | None |
| Xiong [35] (2022) | Chinese | I | c.754C>T | p.Arg115* | 8 | Proteinuria | Yes | Bilateral kidney hypodysplasia |
| Longaretti [36] (2021) | Unknown | I | c.565G>A | p.Gly189Arg | Adult-onset | FSGS | Unknown | Unknown |
| Hu [37] (2021) | Chinese | F | c.76_77insG | p.Val26Glyfs*28 | 15 | FSGS | Yes | Bilateral kidney hypodysplasia |
| Ammar [38] (2021) | Tunisian | F | c.232A>C | p.Ile78Leu | Unknown | FSGS | Unknown | Unknown |
| Bito [39] (2020) | Caucasian | I | c.430C>T | p.Gln144* | 16 | FSGS | Yes | None |
| Rachwani Anil [40] (2019) | Unknown | I | c.418C>T | p.Arg140Ile | 14 | FSGS | Yes | Bilateral kidney hypodysplasia |
| Saida [41] (2020) | Unknown | I | c.70-72delinsA | p.Gly24Argfs*29 | 6 | FSGS | Yes | Coloboma, normal-sized kidneys |
| Okumura [42] (2015) | Unknown | I | c.1023C>A | p.Tyr341* | 28 | FSGS | Yes | Papillorenal syndrome |
| Okumura [42] (2015) | Unknown | I | c.57–58 ins GTGAACC | p.Gln22Argfs*34 | 14 | FSGS | Yes | Coloboma, normal kidneys |
| Okumura [42] (2015) | Unknown | I | c.224-225insAC | p.Gly76Profs*8 | 38 | FSGS | Yes | Papillorenal syndrome |
CAKUT, congenital anomalies of the kidney and urinary tract; F, familial case; FSGS, focal segmental glomerular sclerosis; I, individual case; SNV, single-nucleotide variant.