Table 1.
Features of patients by mutation
| Highest Level of Evidence | # Affected (% Male) | # Unaffected (% Male) | Cause of Death (Age) | Refs | Countries | Age (y) at Symptom Onset or Diagnosis | Presenting Symptoms | |
|---|---|---|---|---|---|---|---|---|
| Experimentally Validated | K230N | 6 (17%) | 1 (100%) | USA | 7 | Lethargy (n = 1) abdominal pain (n = 1) | 1,3 | |
| R233H | 29 (55%) | 6 (67%) | Lung disease (29) Lung disease (63) Suicide (unk) Unk (unk) |
USA France England |
0.83, 1, 2, 2, 2, 2, 2.5, 3, 3, 5, 5, 5, 7, 7, 8, 10, 11, 16, 26, 50a, 56a, 59b,c | Pulmonary (n = 15) Joint symptoms (n = 11) Anemia (n = 3) Renal failure (n = 1) Fever (n = 1) |
1,3,5,6,8,11–13,17,23,24 | |
| E241K | 9 (33%) | 3 (66%) | Unk (unk) | USA Iceland |
1.5, 2, 4, 11, 32c | Joint symptoms (n = 4) Pulmonary (n = 3) |
1,3,19 | |
| V242G | 4 (75%) | Lung disease (4) Lung disease(21) |
Japan | 0.17, 0.33, 0.58, 53a | Pulmonary (n = 3) Joint symptoms (n = 1) |
9,10 | ||
| D243G | 5 (0%) | 4 (100%) | Unk (unk) Unk (unk) | USA | 0.5 | Pulmonary (n = 1) | 1,3 | |
| D243N | 1 (0%) | 1 (0%) | England | 2.5 | Joint symptoms (n = 1) | 5,51 | ||
| Published Case Reports | H199R | 3 (100%) | 1 (50%) | China | 0.25 | Pulmonary (n = 2) Joint symptoms (n = 1) |
34 | |
| K238E | 1 (100%) | China | 7 | Pulmonary (n = 1) Joint symptoms (n = 1) |
34 | |||
| A239P | 3 (100%) | USA Canada China |
0.75, 2, 3 | Pulmonary (n = 3) FTT (n = 2) |
15,38,43 | |||
| W240L | 1 (0%) | Germany | 2 | Pulmonary (n = 1) | 40 | |||
| W240R | 1 (100%) | USA | 12 | Pulmonary (n = 1) FTT (n = 1) |
52 | |||
| W240S | 1 (0%) | Germany | 14 | Pulmonary (n = 1) Joint symptoms (n = 1) |
40 | |||
| E241A | 2 (100%) | USA | 0.5, 7 | Pulmonary (n = 2) | 39 | |||
| R281W | 5 (80%) | 2 (0%) | Lung disease (11) Lung disease (38) | India China Germany Italy |
1.5, 5, 7, 9, <12 | Joint symptoms (n = 3) Pulmonary (n = 2) Anemia (n = 1) | 14,20,36,40 | |
| Q285H | 1 (0%) | France | 6 | Joint symptoms (n = 1) | 35 | |||
| Mutations not Reported | 3 (33%) | USA Canada Brazil |
“childhood” | Pulmonary (n = 3) Joint symptoms (n = 1) | 18,41,53 | |||
a
Identified by family sequencing after mutation found in proband.
b
Identified by the sequencing of lung transplant cohort.
c
COPA syndrome identified after additional organ involvement, age unknown for initial symptoms.