A Novel Mutation in EED Associated with Overgrowth

Overview

Journal J Hum Genet

Specialty Genetics

Date 2015 Mar 20

PMID 25787343

Citations 46

Authors

Ana S A Cohen

Beyhan Tuysuz

Yaoqing Shen

Sanjiv K Bhalla

Steven J M Jones

William T Gibson

Affiliations

Soon will be listed here.

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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