Sleiman Patrick M A, March Michael, Nguyen Kenny, Tian Lifeng, Pellegrino Renata, Hou Cuiping, Dridi Walid, Sager Mohamed, Housawi Yousef H, Hakonarson Hakon
The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Hum Mutat. 2017 May;38(5):507-510. doi: 10.1002/humu.23188. Epub 2017 Mar 10.
Braddock-Carey Syndrome (BCS) is characterized by microcephaly, congenital thrombocytopenia, Pierre-Robin sequence (PRS), and agenesis of the corpus callosum. BCS has been shown to be caused by a 21q22.11 microdeletion that encompasses multiple genes. Here, we report a BCS genocopy characterized by congenital thrombocytopenia and PRS that is caused by a loss-of-function mutation in KIF15 in a consanguineous Saudi Arabian family. Mutations of mitotic kinesins are a well-established cause of microcephaly. To our knowledge, KIF15 is the first kinesin to be associated with congenital thrombocytopenia.
布拉多克-凯里综合征（BCS）的特征为小头畸形、先天性血小板减少、皮埃尔-罗宾序列征（PRS）和胼胝体发育不全。已证实BCS由包含多个基因的21q22.11微缺失引起。在此，我们报告了一个沙特阿拉伯近亲家庭中由KIF15功能丧失突变导致的以先天性血小板减少和PRS为特征的BCS基因复制病例。有丝分裂驱动蛋白的突变是小头畸形的一个公认病因。据我们所知，KIF15是首个与先天性血小板减少相关的驱动蛋白。
