A novel mutation in EED associated with overgrowth

被引：67

作者：

Cohen, Ana S. A. ^{[1
,2
]}

Tuysuz, Beyhan ^{[3
]}

Shen, Yaoqing ^{[4
]}

Bhalla, Sanjiv K. ^{[5
]}

Jones, Steven J. M. ^{[1
,4
,6
]}

Gibson, William T. ^{[1
,2
]}

机构：

[1] Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada

[2] British Columbia Childrens Hosp, Child & Family Res Inst, Vancouver, BC V6H 3V4, Canada

[3] Istanbul Univ, Cerrahpasa Med Fac, Dept Pediat Genet, Istanbul, Turkey

[4] British Columbia Canc Agcy, Canadas Michael Smith Genome Sci Ctr, Vancouver, BC V5Z 4E6, Canada

[5] Surrey Mem Hosp, Dept Radiol, Surrey, BC, Canada

[6] Simon Fraser Univ, Dept Mol Biol & Biochem, Burnaby, BC V5A 1S6, Canada

来源：

JOURNAL OF HUMAN GENETICS | 2015年 / 60卷 / 06期

关键词：

WEAVER SYNDROME; EZH2; COMPLEX;

D O I：

10.1038/jhg.2015.26

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：339 / 342

页数：4

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