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KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability.

João V M MalvezziIngrid H MagalhaesSilvia S CostaPaulo A OttoCarla RosenbergDebora R BertolaWalter Lm FernandesAngela M Vianna-MorganteAna Cv Krepischi
Published in: Human genome variation (2018)
KIF11 mutations are known to cause autosomal dominant microcephaly-lymphedema-chorioretinopathy dysplasia syndrome, associated or not with intellectual disability. We report a father and two children presenting microcephaly, chorioretinopathy and mild intellectual disability associated with a 209-kb microdeletion at 10q23.33. This microdeletion encompasses the entire KIF11 gene. In addition to point mutations, KIF11 haploinsufficiency due to a deletion is causally associated with autosomal dominant microcephaly, chorioretinopathy and mild intellectual disability.
Keyphrases
  • intellectual disability
  • autism spectrum disorder
  • case report
  • young adults
  • zika virus
  • copy number
  • dna methylation
  • genome wide identification