Table 1.
Mendelian disease genes associated with SSNS/MCD
| GENE | LOCUS | Type of mutation |
Protein localization |
Associated with SRNS Y/N |
Extra renal manifestations |
References |
|---|---|---|---|---|---|---|
| EMP2 | 16p13 | Missense Truncating |
Podocyte Endothelial cells |
Y | No | Gee et al [40] |
| EXT1 | 8q23 | Missense | Glomerular basement membrane |
N | Multiple exostoses | Robert et al [54] |
| FOXP3 | Xp11 | Missense | Immune cells | Y | Immunodeficiency Polyendocrinopathy Enteropathy |
Park et al [55] |
|
KANK1 KANK2 |
9p24 19p13 |
Missense | Podocyte | Y | No | Gee et al [53] |
| NPHS1 | 19q12 | Missense | Podocyte and slit diaphragm |
Y | No | Kitamura et al and Lahdenkari et al [51, 52] |
| PLCE1 | 10q23 | Truncating | Podocyte and slit diaphragm |
Y | No | Hinkes et al [48] |
SSNS steroid sensitive nephrotic syndrome, MCD minimal change disease