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Loss-of-Function Mutations in KIF15 Underlying a Braddock-Carey Genocopy
Patrick M A Sleiman1,2, Michael March1, Kenny Nguyen1
1The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Human Mutation
|February 3, 2017
Summary
Braddock-Carey Syndrome (BCS) can be caused by KIF15 gene mutations, leading to congenital thrombocytopenia and Pierre-Robin sequence. This finding expands the genetic causes of BCS and identifies a novel role for KIF15.
Area of Science:
- Genetics
- Developmental Biology
- Hematology
Background:
- Braddock-Carey Syndrome (BCS) is a rare genetic disorder.
- BCS is typically associated with a microdeletion on chromosome 21q22.11.
- Key features include microcephaly, congenital thrombocytopenia, Pierre-Robin sequence (PRS), and agenesis of the corpus callosum.
Observation:
- A consanguineous Saudi Arabian family presented with a BCS genocopy.
- Affected individuals exhibited congenital thrombocytopenia and PRS.
- Clinical features mimicked BCS but lacked the characteristic 21q22.11 microdeletion.
Findings:
- Whole-exome sequencing identified a loss-of-function mutation in the KIF15 gene.
- KIF15 encodes a mitotic kinesin, crucial for cell division.
- This is the first report linking KIF15 mutations to congenital thrombocytopenia.
Implications:
- Identifies KIF15 as a novel causative gene for BCS genocopy.
- Expands the understanding of genetic etiologies for congenital thrombocytopenia.
- Highlights the role of mitotic kinesin mutations in developmental disorders.
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