Provaznikova Dana, Geierova Vera, Kumstyrova Tereza, Kotlin Roman, Mikulenkova Dana, Zurkova Kamila, Matoska Vaclav, Hrachovinova Ingrid, Rittich Simon
Institute of Haematology and Blood Transfusion, Prague, Czech Republic.
Platelets. 2009 Aug;20(5):289-96. doi: 10.1080/09537100902993022.
Currently, the May-Hegglin anomaly (MHA), Sebastian (SBS), Fechtner (FTNS) and Epstein (EPS) syndrome are considered to be distinct clinical manifestations of a single disease caused by mutations of the MYH9 gene encoding the heavy chain of non-muscle myosin IIA (NMMHC-IIA). Manifestations of these disorders include giant platelets, thrombocytopenia and combinations of the presence of granulocyte inclusions, deafness, cataracts and renal failure. We examined 15 patients from 10 unrelated families on whom we performed immunostaining of NMMHC-IIA in blood samples. Polymerase chain reaction (PCR) analysis of selected exons of the MYH9 gene revealed mutations in nine samples with one novel mutation. Results of fluorescence and mutational analysis were compared with clinical manifestations of the MYH9 disorder. We also determined the number of glycoprotein sites on the surface of platelets. Most patients had an increased number of glycoproteins, which could be due to platelet size.
目前，May-Hegglin异常（MHA）、Sebastian综合征（SBS）、Fechtner综合征（FTNS）和Epstein综合征（EPS）被认为是由编码非肌肉肌球蛋白IIA重链（NMMHC-IIA）的MYH9基因突变引起的单一疾病的不同临床表现。这些疾病的表现包括巨大血小板、血小板减少以及粒细胞包涵体、耳聋、白内障和肾衰竭等症状的组合。我们检查了来自10个无亲缘关系家庭的15名患者，并对他们的血液样本进行了NMMHC-IIA免疫染色。对MYH9基因选定外显子的聚合酶链反应（PCR）分析显示，9个样本中有突变，其中一个是新突变。将荧光和突变分析结果与MYH9疾病的临床表现进行了比较。我们还测定了血小板表面糖蛋白位点的数量。大多数患者的糖蛋白数量增加，这可能是由于血小板大小所致。
