Table 1.
Summary of ‘genic’ influences on phenotypes in terms of organ involvement
| Gene (families) | Kidney | Eye | CNS | Liver | Heart | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| 2 null alleles | <2 null alleles | 2 null alleles | <2 null alleles | 2 null alleles | <2 null alleles | 2 null alleles | <2 null alleles | 2 null alleles | <2 null alleles | |
| NPHP1 (226) | 1 (0.4%) + 219 (96.9%) | 6 (2.6%) | 3 (1.3%) + 20 (8.8%) | 1 (0.4%) | 15 (6.6%) + 7 (3%) | 1 (0.4%) | 2 (0.8%) | – | 2 (0.8%) | – |
| NPHP2 (12) | 10 (83.3%) | 2 (16.6%) | 1 (8.3%) + 1 (8.3%) | – | 1 (8.3%) | – | – | – | 2 (16.6%) + 1 (8.3%) | – |
| NPHP3 (5) | 1 (20%) + 3 (60%) | 1 (20%) | – | – | 2 (40%) | – | – | 1 (20%) | 1 (20%) | – |
| NPHP4 (20) | 16 (80%) | 4 (20%) | 3 (15%) + 3 (15%) | 1 (5%) | 2 (10%) | – | 1 (5%) | 1 (5%) | – | – |
| NPHP5 (23) | 23 (100%) | – | 1 (4.3%) + 22 (95.6%) | – | – | – | – | – | – | – |
| NPHP6 (16) | 1 (6.2%) + 13 (81.2%) | 1 (6.2%) + 1 (6.2%) | 8 (50%) + 4 (25%) | 1 (6.2%) + 1 (6.2%) | 11 (68.7%) | 1 (6.2%) | 1 (6.2%) | – | – | – |
| NPHP8 (8) | – | 2 (25%) + 5 (62.5%) | – | – | – | 6 (75%) | – | 1 (12.5%) | – | – |
| NPHP10 (5) | 5 (100%) | – | 4 (80%) | – | 1 (20%) | – | – | – | – | – |
| NPHP11 (18) | – | 1 (5.5%) + 17 (94.4%) | – | 7 (38.5%) + 2 (11.1%) | – | 16 (88%) | – | 1 (5.5%) + 13 (71.5%) | – | 1 (5.5%) |
| AHI1 (5) | 1 (20%) 3 (60%) | – | 1(20%) + 2(40%) | – | 4 (80%) | – | – | – | – | – |
| CC2D2A (3) | – | 3 (100%) | – | – | – | 3 (100%) | – | – | – | 1 (33.3%) |
Abbreviation: CNS, central nervous system.
As splice site mutations can have varying effects, families with splice site mutations were not included in the table. Numbers of patients with dysplastic or degenerative phenotypes are marked with red or green fonts, respectively.