Loss-of-Function Mutations in KIF15 Underlying a Braddock-Carey Genocopy.
Loss-of-Function Mutations in KIF15 Underlying a Braddock-Carey Genocopy.
复制标题
Braddock-Carey 基因拷贝中 KIF15 的功能缺失突变。
DOI：
10.1002/humu.23188
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发表时间：
2017
期刊：
影响因子：
3.9
通讯作者：
Hakonarson,Hakon
中科院分区：
文献类型：
--
作者：
Sleiman,PatrickMA;March,Michael;Nguyen,Kenny;Tian,Lifeng;Pellegrino,Renata;Hou,Cuiping;Dridi,Walid;Sager,Mohamed;Housawi,YousefH;Hakonarson,Hakon
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 inKIF15in a consanguineous Saudi Arabian family. Mutations of mitotic kinesins are a well‐established cause of microcephaly. To our knowledge,KIF15is the first kinesin to be associated with congenital thrombocytopenia.
