Loss-of-Function Mutations in KIF15 Underlying a Braddock-Carey Genocopy.
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.
The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.|Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Patrick M A
PMA
Sleiman
The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Michael
M
March
The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Kenny
K
Nguyen
The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Lifeng
L
Tian
The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Renata
R
Pellegrino
The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Cuiping
C
Hou
Departments of Pediatrics, Pediatric Oncology, Pathology and Laboratory Medicine and Research, King Fahad Specialist Hospital, Dammam, Saudi Arabia.
Walid
W
Dridi
Departments of Pediatrics, Pediatric Oncology, Pathology and Laboratory Medicine and Research, King Fahad Specialist Hospital, Dammam, Saudi Arabia.
Mohamed
M
Sager
Departments of Pediatrics, Pediatric Oncology, Pathology and Laboratory Medicine and Research, King Fahad Specialist Hospital, Dammam, Saudi Arabia.
Yousef H
YH
Housawi
The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.|Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Hakon
H
Hakonarson
D061085:Agenesis of Corpus Callosum / Q000175:diagnosis* / Q000235:genetics*; D000483:Alleles; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D019066:Facies; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005838:Genotype; D006130:Growth Disorders / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D016547:Kinesins / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D010855:Pierre Robin Syndrome / Q000175:diagnosis* / Q000235:genetics*; D012529:Saudi Arabia; D013921:Thrombocytopenia / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics
C486567:KIF15 protein, human; D016547:Kinesins
Braddock-Carey syndrome; KIF15; Pierre-Robin sequence; thrombocytopenia