Three novel mutations in the glycoprotein IIb gene in a patient with type II Glanzmann thrombasthenia
Three novel mutations in the glycoprotein IIb gene in a patient with type II Glanzmann thrombasthenia
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DOI：
10.3324/haematol.10847
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发表时间：
2007-05-01
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影响因子：
--
通讯作者：
Muszbek, Laszlo
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文献类型：
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作者：
Losonczy, Gergely;Rosenberg, Nurit;Muszbek, Laszlo
在血小板的II型血小板无力症患者，糖蛋白（GID）IIb和IIIa的量显着减少。在GPIIb基因中发现了3个新的突变（c.440C -> G/p.Leu116Val，c.1772_1773insG/p.Asp560GlyfsX16和c.2438C -> A/p.His782Asn）。p.Leu116Val不代表致病突变。c.1772_1773insG突变导致早期终止密码子和无义介导的mRNA衰变。在转染的BHK细胞中表达时，截短的蛋白不能与GPIIIa形成复合物。p.His782Asn突变损害了pro-GPIIb/IIIa复合物从内质网到高尔基体的运输，阻碍了其成熟和表面表达。
In the platelets of a type II Glanzmann thrombasthenia patient, the amount of glycoprotein (GID) IIb and IIIa was significantly reduced. Three novel mutations were identified in the GPIIb gene (c.440C -> G/p.Leu116Val, c.1772_1773insG/p.Asp560 GlyfsX16 and c.2438C -> A/p.His782Asn). p.Leu116Val did not represent a causative mutation. The c.1772_1773insG mutation resulted in an early stop codon and nonsense mediated decay of mRNA. When expressed in transfected BHK cells, the truncated protein was unable to form complex with GPIIIa. The p.His782Asn mutation compromised transport of the pro-GPIIb/IIIa complex from the endoplasmic reticulum to the Golgi, hindering its maturation and surface expression.