KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability.
| Autor: | Malvezzi JV; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil., H Magalhaes I; Instituto da Visão, Pouso Alegre, Brazil., S Costa S; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil., Otto PA; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil., Rosenberg C; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil., Bertola DR; Instituto da Criança, Hospital das Clínicas, University of São Paulo Medical School, São Paulo, Brazil., Lm Fernandes W; Department of Pediatrics, College of Medicine of Pouso Alegre, Pouso Alegre, Brazil., Vianna-Morgante AM; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil., Krepischi AC; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil. |
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| Jazyk: | angličtina |
| Zdroj: | Human genome variation [Hum Genome Var] 2018 Mar 29; Vol. 5, pp. 18010. Date of Electronic Publication: 2018 Mar 29 (Print Publication: 2018). |
| DOI: | 10.1038/hgv.2018.10 |
| Abstrakt: | 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. Competing Interests: The authors declare no conflict of interest. |
| Databáze: | MEDLINE |
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