Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
Nat Genet. 2011 Jul 17;43(8):735-7. doi: 10.1038/ng.885.
Gray platelet syndrome (GPS) is a predominantly recessive platelet disorder that is characterized by mild thrombocytopenia with large platelets and a paucity of α-granules; these abnormalities cause mostly moderate but in rare cases severe bleeding. We sequenced the exomes of four unrelated individuals and identified NBEAL2 as the causative gene; it has no previously known function but is a member of a gene family that is involved in granule development. Silencing of nbeal2 in zebrafish abrogated thrombocyte formation.
格雷血小板综合征（GPS）是一种主要为隐性血小板疾病，其特征是血小板轻度减少、大血小板和α-颗粒稀少；这些异常主要导致中度出血，但在极少数情况下会导致严重出血。我们对四名无血缘关系的个体进行了外显子组测序，发现 NBEAL2 是致病基因；它以前没有已知功能，但它是一个参与颗粒发育的基因家族的成员。在斑马鱼中沉默 nbeal2 会破坏血小板的形成。
