Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.

doi:10.1016/j.ajhg.2011.12.018

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Article

Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.

American journal of human genetics - 10 Feb 2012

Ostergaard Pia, Simpson Michael A, Mendola Antonella, Vasudevan Pradeep, Connell Fiona C, van Impel Andreas, Moore Anthony T, Loeys Bart L, Ghalamkarpour Arash, Onoufriadis Alexandros, Martinez-Corral Ines, Devery Sophie, Leroy Jules G, van Laer Lut, Singer Amihood, Bialer Martin G, McEntagart Meriel, Quarrell Oliver, Brice Glen, Trembath Richard C, Schulte-Merker Stefan, Makinen Taija, Vikkula Miikka, Mortimer Peter S, Mansour Sahar, Jeffery Steve

Abstract excerpt

We have identified KIF11 mutations in individuals with syndromic autosomal-dominant microcephaly associated with lymphedema and/or chorioretinopathy. Initial whole-exome sequencing revealed heterozygous KIF11 mutations in three individuals with a combination of microcephaly and lymphedema from a microcephaly-lymphedema-chorioretinal-dysplasia cohort. Subsequent Sanger sequencing of KIF11 in a further 15 unrelated...

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PMID: 22284827
DOI: 10.1016/j.ajhg.2011.12.018
PMCID: PMC3276660

Genes

KIF11

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