KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability

Autor(es)

Malvezzi, Joao V. M. ; Magalhaes, Ingrid H. ; Costa, Silvia S. ; Otto, Paulo A. ; Rosenberg, Carla ; Bertola, Debora R. ; Fernandes, Walter L. M. ; Vianna-Morgante, Angela M. ; Krepischi, Ana C. V.

• Tipo de documento: Artigo Científico
• Fonte: HUMAN GENOME VARIATION; v. 5, p. 3-pg., 2018-01-01.

Resumo

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. (AU)

• Processo FAPESP: 13/08028-1 - CEGH-CEL - Centro de Estudos do Genoma Humano e de Células-Tronco
• Beneficiário: Mayana Zatz
• Modalidade de apoio: Auxílio à Pesquisa - Centros de Pesquisa, Inovação e Difusão - CEPIDs