Table 1.
Clinical phenotype and pattern of COPA gene mutations in different cohorts
| Serial number | Study | Year | Country | No. of patients | Demographic features | Mutation | Clinical features | |
|---|---|---|---|---|---|---|---|---|
| Average age (years) | Sex (M:F) | |||||||
| 1. | Watkin et al15 | 2015 | USA | 21 (from 5 families) | 3.5 | 8:13 | Arg233His, Asp243Gly, Glu241Lys, and Lys230Asn | Joint pain; arthritis; hemorrhage; presence of ANA, ANCA, and Rh factor |
| 2. | Jensson et al27 | 2017 | Iceland | 3 | 4 | 1:2 | p.Glu241Lys | Follicular bronchitis, respiratory infection, diffuse capacity defect, lung obstruction |
| 3. | Volpi et al16 | 2017 | Italy | 1 | 3 | 1 F | c.698G>A | Polyarticular arthritis, chronic cough, ↑Rh factor, interstitial lung disease |
| 4. | Tsui et al17 | 2018 | Multiple centers (USA, Italy, Canada) | 14 | 5 | 3:11 | Arg233His, Asp243Gly, Glu241Lys, and Lys230Asn | Joint pain, hemoptysis diffuse parenchymal lung disease, arthritis, diffuse alveolar hemorrhage |
| 5. | Noorelahi et al28 | 2018 | USA | 1 | 12 | 1 M | p.W240R | Dyspnea on exertion, fatigue and clubbing, and interstitial pneumonia |
Abbreviations: ANA, anti-nuclear antibody; ANCA, anti-neutrophil cytoplasmic antibody; F, female; M, male.