Genotypic and phenotypic associations of the mutations recorded in the study population.
| Mutation type | cDNA position | Patients | Factor IX (IX) concentration level (%) | Age of onset | Inhibitor-positive (N) | Inhibitor-negative (N) | Clinical significance | ||
|---|---|---|---|---|---|---|---|---|---|
| m | M | S | |||||||
| Missense | c.127C>T | 03 | 04 | 02 | 6.5, 8.0, 10 (m) 2.0, 2.3. 1.8, 2.0 (M) 0.8, 0.5 (S) |
10, 12, 8 (m) 7, 6, 9, 9 (M) 1, 1.5 (S) |
2 (m) 2 (M) - |
1 (m) 2 (M) 2 (S) |
Pathogenic |
| Missense | c.195G>A | 00 | 01 | 00 | 3.0 (M) | 7.5 (M) | 1 (M) | - | Likely pathogenic |
| Missense | c.197A>T | 02 | 00 | 01 | 6.0, 9.0 (m) 0.3 (S) |
13, 11 (m) 1 (S) |
- | 2 (m) 1 (S) |
Likely benign |
| Missense | c.198A>T | 00 | 04 | 07 | 1.5, 2.0. 2.5, 2.0 (M) 0.8, 0.5, 0.1, 0.6, 0.6, <0.01, 0.01 (S) |
6, 7, 7, 8 (M) 1, 2, 1, 1.5, 2, 2, 1.6 (S) |
4 (M) 4 (S) |
- 3 (S) |
Pathogenic |
| Stop-gain | c.223C>T | 00 | 00 | 02 | <0.01, <0.01 (S) | 1, 1 (S) | 1 (S) | 1 (S) | Pathogenic |
| Missense | c.304C>T | 02 | 00 | 00 | 12.0, 10.0 (m) | 13, 10 (m) | 2 (m) | - | Likely pathogenic |
| Missense | c.314A>G | 00 | 01 | 03 | 2.0 (M) 0.2, 0.1, 0.01 (S) |
8 (M) 1, 2, 1 (S) |
- | 1 (M) 3 (S) |
Pathogenic |
| Missense | c.470G>A | 03 | 05 | 09 | 5.0, 7.5, 10.3 (m) 2.0, 3.5, 2.5, 1.8, 4.0 (M) 0.8, 0.5, 0.01, 0.2, <0.01, <0.01, 0.4, 0.2, <0.01 (S) |
6.5, 10, 11 (m) 5, 7, 7, 9, 7 (M) 1, 2, 2, 3, 2, 2, 2, 1, 2 (S) |
3 (m) 1 (M) 2 (S) |
- 4 (M) 7 (S) |
Pathogenic |
| Missense | c.580A>G | 03 | 00 | 00 | 10.7, 9.0, 9.0 (m) | 10, 8, 8 (m) | - | 3 (m) | Likely benign |
| Missense | c.676C>T | 00 | 01 | 05 | 4.0 (M) 0.5, 0.1, <0.01, 0.01, <0.01 (S) |
5.5 (M) 3, 1, 2, 2, 1 (S) |
1 (M) 1 (S) |
- 3 (S) |
Pathogenic |
| Missense | c.1070G>A | 01 | 03 | 04 | 6.5 (m) 2.0, 3.8, 2.5 (M) 0.01, 0.1, <0.01, <0.01 (S) |
12 (m) 6, 7, 7 (M) 2, 2, 2, 1 (S) |
- 2 (M) 2 (S) |
1 (m) 1 (M) 1 (S) |
Pathogenic |
| Stop-gain | c.1094C>A | 00 | 03 | 12 | 2.6, 3.5, 1.8 (M) 0.01, 0.01, 0.1, 0.2, <0.01, <0.01, 0.1, 0.01, <0.01, 0.01, <0.01, <0.01 (S) |
7, 7, 6 (M) 1, 2, 2, 2, 2, 3, 1.5, 3, 2, 2, 2.5, 1 (S) |
- 10 (S) |
3 (M) 2 (S) |
Pathogenic |
| Missense | c.1187G>A | 00 | 00 | 01 | 0.6 (S) | 2 (S) | - | 1 (S) | Benign |
| Missense | c.1232G>A | 00 | 00 | 03 | 0.6, 0.3, 0.1 (S) | 2, 1, 1.5 (S) | 1 (S) | 2 (S) | Pathogenic |
| Synonymous | c.1385A>G | 00 | 01 | 00 | 4.0 (M) | 10 (M) | 1 (M) | - | Benign |
| 3’ UTR | c.*1110A>G | 01 | 03 | 00 | 12.0 (m) 5.0, 4.0, 3.8 (M) |
13 (m) 7, 7.5, 9 (M) |
1 (m) 1 (M) |
- 2 (M) |
- |
Abbreviations: m, mild; M, moderate; S, severe.
Blood Res 2021;56:252~258 https://doi.org/10.5045/br.2021.2021016
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