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


ABSTRACT: 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.

SUBMITTER: Malvezzi JV 

PROVIDER: S-EPMC6694292 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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

Malvezzi João Vm JV   H Magalhaes Ingrid I   S Costa Silvia S   Otto Paulo A PA   Rosenberg Carla C   Bertola Debora R DR   Lm Fernandes Walter W   Vianna-Morgante Angela M AM   Krepischi Ana Cv AC  

Human genome variation 20180329


<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  ...[more]

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