|
| Disease | Gene locus | Gene | Exons (n°) | mRNA (kb) | Protein | Animal model | References |
|
| Autosomal dominant renal coloboma syndrome (RCS) | 10q24.3–q25.1 | PAX-2 | 11 | 3.5 kb | Paired box gene 2 (PAX-2), transcription factor | PAX2−/− knockout mice: lack kidneys. | [28] |
|
(i) Denys-Drash and Frasier syndromes
(ii) Wilms tumor | 11p13 | WT-1 | 9 | 3 kb | Wilms’ tumor 1 (WT1), transcription factor | WT1−/− knockout mice: lack kidneys. |
Rose et al.; Cell, 1990. |
|
| Nail-patella syndrome | 9q33.3 | LMX-1B | 8 | 1.1 kb | M homeobox transcription factor 1, beta | LMX1B−/− knockout mice: reduced numbers of podocyte foot processes, absence of SD and GBM abnormalities. | [29] |
|
| Alport syndrome (AS) | Xq22.3 | COL4A5 | 51 | 6.4 kb | Type IV collagen, alpha 5 chain | Canine X-linked hereditary nephritis: transcription of COL4A5 gene was reduced by a factor of 10 in the affected dog. | Barker et al.; Science, 1990 [30] |
|
(i) May-Hegglin anomaly
(ii) Sebastian syndrome (SBS)
(iii) Fechtner syndrome (FTNS)
(iv) Epstein syndrome (EPTS) | 22q12.3–13.1 | MYH9 | 40 | 7.2 kb | Nonmuscle myosin heavy chain IIA (NMMHC-IIA) | — | [31] |
|
| Minimal change disease (MCD) | 3p21 | DAG1 | 3 | 5.4 kb | Dystrophin-associated glycoprotein 1 | DAG1−/− mice: developmental abnormalities. | [32] |
|
| CNS of Finnish type (CNF) | 19q13.1 | NPHS1 | 29 | 4.3 kb | Nephrin | NPHS1−/− knockout mice: nephrotic syndrome, perinatal lethality, and effacement of podocyte foot processes. | Kestilä et al.; Molec Cell, 1998 [33]. |
|
| Steroid-resistant NS (SRNS) | 1q25–q31 | NPHS2 | 8 | 1.8 kb | Podocin | — | Boute et al.; Nature Genet, 2000 [34]. |
|
| Focal segmental glomerulosclerosis (FSGS) | 6p12 | CD2AP | 18 | 4.6 kb | CD2-associated protein | CD2AP−/− knockout mice: compromised immune function and death of massive proteinuria shortly after birth. | Kim et al.; Science, 2003 [35]. |
|
| Focal segmental glomerulosclerosis (FSGS) | 19q13 | ACTN4 | 21 | 2.9 kb | α-actninin-4 | ACTN4−/− mice: progressive proteinuria, glomerular disease, death by several months of age. | Kaplan et al.; Nature Genet, 2000 [36]. |
|
| Focal segmental glomerulosclerosis (FSGS) | 11q21-q22 | TRPC6 | 13 | 4.5 kb | Transient receptor potential channel 6 | — | Winn et al.; Science 2005 [37].
Reiser et al.; Nat Genet 2005 [38]. |
|
| Unknown | 1q21–q25 | KIRREL
o NEPH1 | 14 | 9 kb | Nephrin-like 1 (NEPH1) | NEPH1−/− knockout mice: nephrotic syndrome, perinatal lethality, and effacement of podocyte foot processes. | Donoviel et al.; Molec Cell Biol, 2001 [39]. |
|
| Unknown | 19q13.1 | NLG1/NEPH3 | 15 | 2.5/3.5 kb | Filtrin | — | Ihalmo et al.; Biochem Biophys Res Commun, 2003 [40].
Sellin et al.; FASEB J, 2003 [41]. |
|
| Clear cell renal carcinoma | 4q34-q35 | FAT | 24 | 14.7 kb | FAT tumor suppressor homolog 1 (Drosophila) | FAT−/− knockout mice: perinatal lethality. | [42] |
|
