Loss‐of‐Function Mutations in KIF15 Underlying a Braddock–Carey Genocopy

ABSTRACT 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. Braddock‐Carey Syndrome (BCS) is characterized by microcephaly, congenital thrombocytopenia the 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. To our knowledge KIF15 is the first kinesin to the first to be associated with congenital thrombocytopenia.