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

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

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.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Agenesis of Corpus Callosum / diagnosis*
  • Agenesis of Corpus Callosum / genetics*
  • Alleles
  • Child, Preschool
  • DNA Mutational Analysis
  • Facies
  • Female
  • Gene Frequency
  • Genetic Association Studies
  • Genotype*
  • Growth Disorders / diagnosis*
  • Growth Disorders / genetics*
  • Humans
  • Kinesin / genetics*
  • Kinesin / metabolism
  • Mutation*
  • Pedigree
  • Phenotype*
  • Pierre Robin Syndrome / diagnosis*
  • Pierre Robin Syndrome / genetics*
  • Saudi Arabia
  • Thrombocytopenia / congenital*
  • Thrombocytopenia / diagnosis
  • Thrombocytopenia / genetics

Substances

  • KIF15 protein, human
  • Kinesin

Supplementary concepts

  • Thrombocytopenia Robin sequence