Table 2.
Genotype-phenotype correlation of 89 children in the Nephronophthisis Registry carrying mutations in various ciliary genes
| Genotype | Senior Løken | Joubert | COACH | COMA | Jeune/MSS | CKD | Age at ESRD, yr (1) | Liver Involvement | Ocular Involvement | CNS Involvement | Airways Involvement | Skeletal Involvement |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NPHP1, n=60 | 7 | 5 | — | 8 | — | 98 | 11.4±2.4 (n=43) | 8 | 41 | 25 | 8 | 2 |
| NPHP3, n=4 | — | — | — | — | — | 100 | 0.7; 4; 8; 10 (n=4) | 100 | 25 | — | 50 | — |
| NPHP4, n=5 | — | — | — | — | — | 100 | 14 (n=1) | — | — | 20 | — | — |
| NPHP5/IQCB1, n=5 | 100 | — | — | — | — | 100 | 14; 16; 16; 27 (n=4) | — | 100 | 20 | — | — |
| NPHP6/CEP290, n=5 | — | 100 | — | — | — | 60 | 7; 21 (n=2) | — | 100 | 100 | 40 | — |
| NPHP11/TMEM67, n=6 | — | 33 | 33 | 17 | — | 67 | 3; 6; 8; 18 (n=4) | 100 | 83 | 83 | — | — |
| IFT140, n=4 | — | — | — | — | 100 | 100 | 7; 10 (n=2) | 25 | 100 | 25 | — | 100 |
Cell contents are the percentages of participants in a given row (genotype) for which the phenotype listed in the column header was observed or the ages (as means±SD or lists of individual ages) at which ESRD developed. COACH, cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, hepatic fibrosis; COMA, congenital oculomotor apraxia; MSS, Mainzer–Saldino syndrome; CNS, central nervous system; —, 0% of patients.