Isolation of novel class I mutation in infantile acute myeloid

点击翻译按钮获取中文摘要

Neonates with Down syndrome (DS) are at a high risk of developing transient abnormal myelopoiesis (TAM) and myeloid leukemia in DS (ML-DS). Most cases with both disorders carry somatic GATA1 mutations. This mutation results in the exclusive expression of a truncated protein lacking the N-terminal 83 amino acids (GATA1s). We tried to isolation of novel class I mutation from these disorders, but unfortunately we could not execute the object. Here, we report naturally occurring GATA1 mutants with internal deletions of 15 or 43 amino acids (GATA1 ID) observed in six patients with TAM, which were caused by abnormal alternative splicing due to the mutations in exon 3. WBC counts of all patients have the mutations were extremely high. These results indicated that the mutations have class 1 like activity