Annals of Hematology
The genetic predisposition to familial hematological malignancies has been previously reported highlighting inherited gene mutations. Several genes have been reported but genetic basis remains not well defined. In this study, we extended our investigation to a potential candidate GATA2 gene which was analyzed by direct sequencing in 119 cases inclu...
The EuroBiotech Journal
Emberger Syndrome (ES) is a very rare genetic disorder associated with primary lymphedema, myelodysplasia and immunodeficiency. The syndrome has autosomal dominant inheritance with incomplete penetrance. Sporadic cases caused by de novo germinal mutations in the GATA2 gene have also been described. We developed the test protocol on the basis of the...
Chinese Journal of Contemporary Pediatrics
患儿女，11岁，发现面色苍白、贫血逐渐加重1年，既往体质较弱，每年约3~5次右中肺肺炎病史，予抗感染治疗后可好转。患儿及其母亲均为先天性聋哑。体格检查可见贫血貌，无出血、黄疸、肝脾大和淋巴结肿大等表现，血常规提示三系减少，为正细胞性贫血，骨髓中粒红系有巨幼样变，未见明显原始细胞增多及其他转移瘤细胞，全外显子组测序提示存在已知ES致病突变：GATA2基因c.1084C > T（p.Arg362*）。该患儿最终确诊为ES，随访发现由MDS最终转化为AML。ES为罕见的常染色体显性遗传MDS，临床不多见，诊断较困难。建议对不明原因淋巴水肿、先天性耳聋，要警惕ES可能，应进一步完善相关基因检查明确诊断。