Table 3.
Clinical profiles of the patients with DRC1 CNV
| Family | Patient | Sex |
Age at diagnosis (years) |
TEMa | Situs inversus | Nasal NO production (nL/min) |
|---|---|---|---|---|---|---|
| 1 | 16162 (III‐1) | F | 25 | MTD (7.7%) | N | NA |
| 17002 (III‐2) | M | 23 | MTD (25%) | N | NA | |
| 16163 (III‐3) | F | 20 | MTD (7.8%) | N | NA | |
| 2 | 4D4C4733 (III‐1) | F | 16 | MTD (23%) | N | 67 |
| 3 | 17B630C2 | M | 5 |
CA (16%) MTD (9.3%) |
N | 3.3 |
| 342E9543 | M | 1 |
CA (17%) MTD (67%) |
N | 3.3 | |
| 4 | J03 | F | 64 | NA | N | NA |
| J04 | F | 61 | NA | N | NA | |
| 5 | 0D389546 | F | 18 | NA | N | 14.0 |
| 6 | 1BD3A017 | M | 42 |
CA (42%) MTD (11%) |
N | NA |
| 7 | 16039 | F | 32 | NA | N | NA |
| 8 | 16052 | F | 12 | NA | N | NA |
| 9 | AEB51AF4 | F | 7 | NA | N | NA |
| 10 | 16149 | F | 54 | NA | N | NA |
| 11 | 17028 | F | 3m | NA | N | NA |
| 12 | 17059 | M | 21 |
CA (8.3%) MTD (29%) |
N | 16.5 |
| 13 | 17061 | F | 11 | CA (5.7%) | N | 16.8 |
| 14 | 18003 | F | 12 | Normal | N | NA |
| 15 | 18046 | F | 11 | NA | N | NA |
| 16 | 18047 | M | 44 | NA | N | NA |
| 17 | 18097 | F | 25 |
CA (7.7%) MTD (54%) |
N | NA |
Abbreviations: CA, central apparatus abnormalities; MTD, microtubule disorganization; N, no; NA, not available; TEM, transmission electron microscopy.
a
The percentage of abnormal cilia with CA or MTD is calculated against all of the observed cilia cross‐sections.