Format

Send to

Choose Destination
Hum Mutat. 2017 May;38(5):507-510. doi: 10.1002/humu.23188. Epub 2017 Mar 10.

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

Author information

1
The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
2
Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
3
Departments of Pediatrics, Pediatric Oncology, Pathology and Laboratory Medicine and Research, King Fahad Specialist Hospital, Dammam, Saudi Arabia.

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.

KEYWORDS:

Braddock-Carey syndrome; KIF15; Pierre-Robin sequence; thrombocytopenia

PMID:
28150392
DOI:
10.1002/humu.23188
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center