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| GENATLAS PHENOTYPE |
| last update : 20-02-2009 |
| Symbol | AMKLDS |
| Location | Xp11.23 |
| Name | acute megakaryoblastic leukemia, Down syndrome-related |
| Corresponding gene | GATA1 |
| Main clinical features | children with trisomy 21 have a 10- to 20-fold elevated risk of developing leukemia, particularly acute megakaryoblastic leukemia |
| Genetic determination | somatic |
| Related entries | TRI21, TAM |
| Function/system disorder | hematology |
| Type | disease |
| Gene product |
| Name | transcription factor GATA1 |
| Mechanism(s) |
| Gene mutation | Chromosome rearrangement | Effect | Comments |
| nonsense
|
| truncated protein
| somatic mutations in exon 2 of GATA1 have been detected in cases of both megakaryoblastic leukemia and transient myeloproliferative disorder, they prevent the synthesis of the full-length protein but allow the synthesis of its short form, GATA-1s
| missense
|
|
| a specific, acquired mutation, JAK2R683G is found in 28 percent of cases,
| deletion
|
|
| additional submicroscopic deletions in key genes, including ETV6, CDKN2A, and PAX5
| |
| Remark(s) | these results infer a complex molecular pathogenesis for DS-ALL leukemogenesis |