Table 3.
Molecular genetic and clinical findings of the 11 sibling sets with Joubert syndrome
| Patient No. | Family No. | NIH Ciliopathy No. | Sex | Age, yr | Gene | Polydactyly | Coloboma | Retinal Dystrophy | Liver Disease | Kidney Disease |
|---|---|---|---|---|---|---|---|---|---|---|
| 6 | 6 | 302 | m | 5.1 | TMEM67 | − | + | − | + | − |
| 7 | 301 | m | 9.5 | − | + | − | + | − | ||
| 8 | 7 | 271 | f | 6.7 | TMEM67 | − | − | − | + | + |
| 9 | 272 | m | 9.3 | − | − | − | + | + | ||
| 10 | 8 | 557 | m | 6.8 | TMEM67 | − | + | − | + | + |
| 11 | 559 | m | 16.7 | − | + | − | + | + | ||
| 19 | 16 | 562 | m | 22.9 | TMEM67 | − | + | − | + | − |
| 20 | 561 | m | 24.9 | − | + | − | + | − | ||
| 21 | 560 | m | 29.6 | − | + | − | + | − | ||
| 23 | 18 | 488 | m | 0.6 | C5orf42 | − | − | − | − | − |
| 24 | 487 | f | 5.3 | − | − | − | − | − | ||
| 30 | 24 | 501 | m | 10 | C5orf42 | + | − | − | + | − |
| 31 | 500 | f | 11.8 | + | − | − | + | − | ||
| 36 | 29 | 482 | f | 24.5 | C5orf42 | + | − | − | + | − |
| 37 | 481 | m | 27.6 | + | − | − | + | − | ||
| 44 | 36 | 577 | f | 13.1 | CC2D2A | − | − | − | − | − |
| 45 | 576 | f | 15.7 | − | − | − | − | − | ||
| 74 | 65 | 7504 | f | 19 | INPP5E | − | − | + | − | − |
| 75 | 7503 | f | 21 | − | − | + | − | − | ||
| 76a | 66 | 520 | f | 1.2 | TMEM231 | − | − | +/− | +/− | − |
| 77 | 518 | f | 4.8 | − | − | + | − | − | ||
| 78 | 519 | f | 4.8 | − | − | + | − | − | ||
| 90 | 78 | 390 | f | 1.9 | KIAA0753 | − | − | − | − | − |
| 91 | 389 | m | 7 | − | − | − | − | − |
NIH, National Institutes of Health; m, male; f, female.
a
Because of the young age of this patient, her retinal examination was not conclusive, and liver involvement classification, which was made on the basis of liver hyperechogenicity, was not definitive, because liver can be physiologically hyperechogenic during the first years of life.