Table 2 Clinical data, ciliary ultrastructural defects, and genetic mutations in Chinese patients with PCD
From: Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review
GENE | Zygosity | Type of variants | FEV1% of predicted | nNO | TEM | Viscera situs | Infertility | Predominant HSVA |
|---|---|---|---|---|---|---|---|---|
DNAH5 (n = 30) | Homo (n = 3) | Missense 3 | 94.7 (10.9) n = 17 | 12.6 (5.1) n = 17 | ODA (12) ODA + IDA (3) Normal (1) | SIT (16) SS (4) HTX (1) | 1 | Immotile (11) |
|  | Comp het (n = 25) | Missense 17 nonsense 13 frameshift 12 splicing 5 duplication/deletion/non-coding 1 |  |  |  |  |  |  |
DNAH11 (n = 26) | Comp het (n = 25) | Missense 32 nonsense 9 frameshift 4 splicing 3 deletion 1 | 89.3 (29.3) n = 10 | 13.1 (8.2) n = 15 | Normal (9) Oligocilia (4) CA (1) | SIT (6) SS (3) HTX (2) |  | Restricted (8) |
CCDC39 (n = 13) | Homo (n = 3) | Frameshift 3 | 62.5 (20.2) n = 10 | 17.4 (8.4) n = 9 | MTD + IDA + CA (10) | SIT (6) SS (6) HTX (1) |  | Stiff (3) Immotile (2) |
|  | Comp het (n = 10) | Frameshift 9 nonsense 6 splicing 5 |  |  |  |  |  |  |
CCDC40 (n = 9) | Comp het (n = 8) | Nonsense 6 missense 4 frameshift 3 deletion 2 splicing 1 | 94.7 (10.1) n = 3 | 13.9 (6.7) n = 4 | MTD + IDA + CA (7) IDA + MTD + ODA (1) | SIT (7) SS (1) | 4 | Stiff (4) |
HYDIN (n = 7) | Comp het (n = 7) | Missense 6 nonsense 4 splicing 3 frameshift 1 |  |  | CA (3) MTD (2) Normal (1) | SS (6) HTX (1) |  | Circular (2) |
CCNO (n = 7) | Homo (n = 4) | Frameshift/nonsense 2 | 62.3 (17.8) n = 6 | 27.1 (16.7) n = 5 | No cilia (2) | SS (4) |  |  |
|  | Comp het (n = 3) | Frameshift 4 nonsense/missense 1 |  |  |  |  |  |  |
DNAAF3 (n = 7) | Homo (n = 1) | Missense 1 | 91.8 (4.9) n = 2 | 8.2 (7.0) n = 4 | ODA + IDA (6) | SIT (5) |  | Immotile (5) |
|  | Comp het (n = 6) | Frameshift 6 missense 4 splicing/nonsense 1 |  |  |  |  |  |  |
DNAH1 (n = 5) | Homo (n = 2) | Nonsense 2 |  | 37.1 (16.1) n = 4 | Normal (1) | SIT (1) | 1 |  |
|  | Comp het (n = 3) | Missense 4 frameshift/splicing 1 |  |  |  |  |  |  |
LRRC6 (n = 5) | Homo (n = 3) | Frameshift/nonsense/deletion 1 |  | 8.7 n = 1 | ODA + IDA (2) | SIT (3) SS (1) | 2 |  |
|  | Comp het (n = 2) | Missense 3 splicing 1 |  |  |  |  |  |  |
DNAI1 (n = 4) | Homo (n = 2) | Missense 2 | 61.4 (24.2) n = 2 | 5.8 (1.0) n = 2 | ODA (3) | SIT (2) | 1 | Immotile (1) |
|  | Comp het (n = 2) | Missense 3 Frameshift 1 |  |  |  |  |  |  |
CCDC114 (n = 3) | Homo (n = 1) | Missense 1 | 100.9 (n = 1) | 12.1 (n = 1) |  | SS (1) |  | Stiff (1) |
|  | Comp het (n = 2) | Frameshift/splicing 2 |  |  |  |  |  |  |
CCDC151 (n = 3) | Homo (n = 2) | Frameshift/nonsense 1 |  |  |  | SIT (3) |  |  |
|  | Comp het (n = 1) | Frameshift/splicing 1 |  |  |  |  |  |  |
DNAAF1 (n = 3) | Homo (n = 1) Comp het (n = 2) | Nonsense 1 Frameshift 3 splicing 1 | 38.4(20.7) n = 2 | 14 (n = 1) | ODA + IDA (1) | SIT (3) | 2 | Immotile (1) |
PIH1D3 (n = 3) | X-linked (n = 3) | Deletion 2 frameshift 1 |  |  | ODA + IDA (2) | SIT (1) SS (1) HTX (1) | 2 |  |
ARMC4 (n = 2) | Homo (n = 1) | Frameshift 1 | 32 (n = 1) | 7.1 (n = 1) | ODA (1) | SIT (1) |  |  |
|  | Comp het (n = 1) | Missense 2 |  |  |  |  |  |  |
DNAAF6 (n = 2) | X-linked (n = 2) | Frameshift/missense 1 |  |  | ODA + IDA (2) | SS (1) HTX (1) | 2 |  |
DYX1C1 (n = 2) | Homo (n = 2) | Nonsense 2 | 44 (n = 1) |  |  | SIT (2) | 2 |  |
HEATR2 (n = 2) | Comp het (n = 2) | Missense 3 synonymous 1 |  |  | ODA + IDA (1) |  |  |  |
RSPH9 (n = 2) | Comp het (n = 2) | Missense 3 non-coding 1 |  |  | CA (1) |  |  |  |
SPAG1 (n = 2) | Comp het (n = 2) | Frameshift 4 |  |  | ODA + IDA (2) | SIT (1) |  |  |
CCDC103 (n = 1) | Homo (n = 1) | Frameshift 1 |  | 9.5 (n = 1) | ODA (1) | SIT (1) |  | Immotile (1) |
DNAH14 (n = 1) | Comp het (n = 1) | Frameshift 2 |  | 63 (n = 1) | IDA (1) |  |  |  |
DNAAF2 (n = 1) | Comp het (n = 1) | Nonsense 2 |  |  |  | SIT (1) | 1 |  |
OFD1 (n = 1) | X-linked (n = 1) | frameshift 1 |  | 6.2 (n = 1) | IDA + MTD + ODA (1) | SIT (1) |  | Stiff (1) |
RSPH4A (n = 1) | Homo (n = 1) | Missense 1 |  |  | CA (1) |  |  |  |