A novel mutation in EED associated with overgrowth

J Hum Genet. 2015 Jun;60(6):339-42. doi: 10.1038/jhg.2015.26.

Ana S A Cohen ¹, Beyhan Tuysuz ², Yaoqing Shen ³, Sanjiv K Bhalla ⁴, Steven J M Jones ⁵, William T Gibson ¹

Affiliations

1 1] Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada [2] Child and Family Research Institute, British Columbia Children's Hospital, Vancouver, BC, Canada.
2 Department of Pediatric Genetics, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey.
3 Canada's Michael Smith Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, BC, Canada.
4 Department of Radiology, Surrey Memorial Hospital, Surrey, BC, Canada.
5 1] Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada [2] Canada's Michael Smith Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, BC, Canada [3] Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, BC, Canada.

PMID: 25787343 DOI: 10.1038/jhg.2015.26

Abstract

In a patient suspected clinically to have Weaver syndrome, we ruled out mutations in EZH2 and NSD1, then identified a previously undescribed de novo mutation in EZH2's partner protein EED. Both proteins are members of the Polycomb Repressive Complex 2 that maintains gene silencing. On the basis of the similarities of the patient's phenotype to Weaver syndrome, which is caused by de novo mutations in EZH2, and on other lines of evidence including mouse Eed hypomorphs, we characterize this mutation as probably pathogenic for a Weaver-like overgrowth syndrome. This is the first report of overgrowth and related phenotypes associated with a constitutional mutation in human EED.

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