Loss of Function Mutations in KIF15 Underlying a Braddock-Carey Genocopy

ABSTRACT

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. 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.

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