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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

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Mutations in EZH2 cause Weaver syndrome.

William T Gibson¹, Rebecca L Hood, Shing Hei Zhan

¹Department of Medical Genetics, University of British Columbia, Vancouver, Canada. wtgibson@cfri.ubc.ca

American Journal of Human Genetics

|December 20, 2011

Summary

Mutations in the enhancer of zeste homolog 2 (EZH2) gene cause Weaver syndrome. This genetic finding was identified through whole-exome sequencing in affected families, pinpointing new de novo mutations.

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Area of Science:

Genetics
Developmental Biology
Molecular Biology

Background:

Weaver syndrome is a rare overgrowth disorder with characteristic features.
The genetic basis of Weaver syndrome has remained largely unknown.
Previous studies have not identified specific causative genes.

Purpose of the Study:

To identify the genetic cause of Weaver syndrome.
To investigate the role of the enhancer of zeste homolog 2 (EZH2) gene in Weaver syndrome pathogenesis.

Main Methods:

Trio-based whole-exome sequencing was performed on two families with Weaver syndrome.
Rare variants in affected individuals were filtered against parental variants.
Sanger sequencing was used to confirm mutations in a third patient.

Main Results:

Two distinct de novo mutations in the enhancer of zeste homolog 2 (EZH2) gene were identified in the two families.
A third de novo mutation in EZH2 was found in a classically affected individual.
These mutations were absent in unaffected family members.

Conclusions:

Mutations in the enhancer of zeste homolog 2 (EZH2) gene are the cause of Weaver syndrome.
EZH2 plays a critical role in human growth and development.
Identification of EZH2 mutations provides a molecular basis for Weaver syndrome diagnosis and potential therapeutic strategies.