Table 2.
The gene variants detected in CHD patients with heterotaxy.
| Patient number | Patient | Gender | Age (year) | Ciliary motion pattern* | Gene | Base change | Amino acid change |
|---|---|---|---|---|---|---|---|
| 1 | #5031 | M | 3.8 | I + R + D | DNAH11 | c.G2406A | p.W802X |
| DNAH11 | c.G846C | p.M282I | |||||
| 2 | #5045 | M | 4.4 | R + D | DNAH11 | c.C10379A | p.T3460K |
| DNAH11 | c.G13273A | p.G4425S | |||||
| 3 | #5065 | M | 5.4 | I + R | DNAH11 | c.G1339A | p.G447R |
| DNAH11 | c.T3470G | p.L1157R | |||||
| 4 | #5130 | F | 3.6 | R + D | DNAH11 | c.T6785C | p.I2262T |
| DNAH11 | c.G11398C | p.D3800H | |||||
| CCDC65 | c.A881G | p.K294R | |||||
| DNAAF2 | c.C1753T | p.P585S | |||||
| 5 | #5707 | M | 0.5 | R + I | DNAH11 | c.5470dupC | p.S1823fs |
| DNAH11 | c.T8275C | p.F2759L | |||||
| DNAH11 | C13183T | p.R4395X | |||||
| 6 | #5062 | F | 8.6 | I + R | DNAH11 | c.A10829T | p.D3610V |
| DNAH11 | c.A727G | p.I243V | |||||
| HYDIN | c.C2503T | p.H835Y | |||||
| 7 | 5033 | M | 6.8 | R + D | DNAH11 | c.C6983T | p.P2328L |
| HYDIN | c.A9022C | p.N3008H | |||||
| 8 | 5176 | F | 1.5 | R + D | HYDIN | c.C7492T | p.R2498C |
| DNAH8 | c.A12517G | p.M4173V | |||||
| 9 | 5071 | M | 5.7 | R + D | DNAH8 | c.C4690T | p.P1564S |
| ARMC4 | c.C1679T | p.A560V | |||||
| 10 | 5040 | M | 3.2 | R + D + I | DNAH8 | c.G6730A | p.V2244I |
| 11 | 5145 | F | 3.7 | R | DHAH8 | c.C4690T | p.P1564S |
| 12 | 5043 | M | 2.2 | I | DNAH5 | c.A3086T | p.D1029V |
| 13 | 5063 | M | 4.3 | none | DNAH5 | c.A10169G | p.D3390G |
| 14 | 5032 | F | 16.7 | R + D | DNAH5 | c.G13364T | p.G4455V |
| 15 | 5053 | M | 4.2 | R + D | DNAH5 | c.G12212A | p.R4071H |
| 16 | 5055 | M | 1.2 | none | HYDIN | c.G3252A | p.V1085M |
| 17 | 5133 | F | 4.5 | none | HYDIN | c.C8905T | p.R2969W |
| 18 | 5064 | M | 19.2 | R + D | CCDC40 | c.C1669T | p.R557W |
| 19 | 5030 | F | 13.3 | N | DNAH8 | c.G12721A | p. A4241T |
| SPAG1 | c.G225T | p.L75F | |||||
| DRC1 | c. G350A | p. R117H | |||||
| 20 | 5076 | F | 11.7 | N | none | none | none |
| 21 | 5056 | M | 3.9 | N | none | none | none |
| 22 | 5088 | M | 8.2 | N | none | none | none |
| 23 | 5066 | F | 4.4 | R + D | none | none | none |
| 24 | 5087 | F | 8.8 | R + D | none | none | none |
| 25 | 5041 | M | 3 | R + D | none | none | none |
| 26 | 5044 | F | 3 | R + D | none | none | none |
| 27 | 5048 | M | 3 | R + D | none | none | none |
| 28 | 5029 | M | 5.3 | N | none | none | none |
| 29 | 5035 | M | 7.5 | N | none | none | none |
| 30 | 5049 | M | 1.4 | N | none | none | none |
| 31 | 5155 | M | 3.9 | N | none | none | none |
| 32 | 5072 | M | 4.9 | N | none | none | none |
| 33 | 5078 | M | 4.6 | N | none | none | none |
| 34 | 5101 | M | 0.1 | N | none | none | none |
| 35 | 5050 | M | 4.2 | R + D | none | none | none |
| 36 | 5052 | F | 20.1 | R + D + I | none | none | none |
| 37 | 5061 | M | 1.3 | R + D | none | none | none |
| 38 | 5020 | M | 1.9 | none | none | none | none |
| 39 | 5191 | F | 4 | R + D | none | none | none |
| 40 | 51531 | M | 4.5 | W | none | none | none |
| 41 | 51557 | M | 0.8 | N | none | none | none |
| 42 | 5037 | F | 12.4 | N | none | none | none |
*I: immotile; D: discordance; W: wave; R: restricted; None: no cilia; N: normal.