KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability

Abstract

<i>KIF11</i> 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 <i>KIF11</i> gene. In addition to point mutations, <i>KIF11</i> haploinsufficiency due to a deletion is causally associated with autosomal dominant microcephaly, chorioretinopathy and mild intellectual disability.