Table 6.
Molecular diagnosis of other inherited platelet disorders
| Patients with molecular diagnosis | Gene | Inheritance | Mutation | Reference |
|---|---|---|---|---|
| Chediak-Higashi Syndrome (CHS) | ||||
| CHS-1 | LYST/CHS1 | Homozygous | p.Gly3725Arg | [42] |
| CHS-2 | LYST/CHS1 | Homozygous | p.Cys258Arg | [42] |
| Hemansky-Pudlak Syndrome (HPS) | ||||
| HPS-1 | HPS1 | Homozygous | p.Glu204Stop | [43] |
| MYH9 related disorders (MYH9-RD) | ||||
| MYH9-RD-1 | MYH9 | Heterozygous | p.Arg1165Cys | [44] |
| MYH9-RD-2 | MYH9 | Heterozygous | p.Glu1841Lys | [44] |
| MYH9-RD-3 | MYH9 | Heterozygous | p.Asp1424Glu | [45] |
| Congenital Amegakaryocytic Thrombocytopenia (CAMT) | ||||
| CAMT-1 | MPL | Homozygous | p.Arg102Cys | [23] |
| Thrombocytopenia 2 (THC2) | ||||
| THC2-1 | ANKRD26 | Heterozygous | c.-128G > A | [24] |