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.
CITATION STYLE
Malvezzi, J. V. M., Magalhaes, I. H., Costa, S. S., Otto, P. A., Rosenberg, C., Bertola, D. R., … Krepischi, A. C. (2018). KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability. Human Genome Variation, 5. https://doi.org/10.1038/hgv.2018.10
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