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Loss‐of‐Function Mutations in KIF15 Underlying a Braddock–Carey Genocopy
Author(s) -
Sleiman Patrick M.A.,
March Michael,
Nguyen Kenny,
Tian Lifeng,
Pellegrino Renata,
Hou Cuiping,
Dridi Walid,
Sager Mohamed,
Housawi Yousef H.,
Hakonarson Hakon
Publication year - 2017
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.23188
Subject(s) - biology , microcephaly , genetics , mutation , agenesis of the corpus callosum , loss function , missense mutation , gene , corpus callosum , phenotype , neuroscience
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.