1.
Hum Mutat
; 38(5): 507-510, 2017 05.
Article
in English
| MEDLINE
| ID: mdl-28150392
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.
Subject(s)
Agenesis of Corpus Callosum/diagnosis , Agenesis of Corpus Callosum/genetics , Genotype , Growth Disorders/diagnosis , Growth Disorders/genetics , Kinesins/genetics , Mutation , Phenotype , Pierre Robin Syndrome/diagnosis , Pierre Robin Syndrome/genetics , Thrombocytopenia/congenital , Alleles , Child, Preschool , DNA Mutational Analysis , Facies , Female , Gene Frequency , Genetic Association Studies , Humans , Kinesins/metabolism , Pedigree , Saudi Arabia , Thrombocytopenia/diagnosis , Thrombocytopenia/genetics
2.
Blood
; 122(3): 461-2, 2013 Jul 18.
Article
in English
| MEDLINE
| ID: mdl-23869080