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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

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 ...[more]

PMID: 31428438

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