Mutations in EZH2 cause Weaver syndrome.
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ABSTRACT:
SUBMITTER: Gibson WT
PROVIDER: S-EPMC3257956 | biostudies-literature | 2012 Jan
REPOSITORIES: biostudies-literature
Publications
Mutations in EZH2 cause Weaver syndrome.
Gibson William T WT Hood Rebecca L RL Zhan Shing Hei SH Bulman Dennis E DE Fejes Anthony P AP Moore Richard R Mungall Andrew J AJ Eydoux Patrice P Babul-Hirji Riyana R An Jianghong J Marra Marco A MA Chitayat David D Boycott Kym M KM Weaver David D DD Jones Steven J M SJ
American journal of human genetics 20111215 1
We used trio-based whole-exome sequencing to analyze two families affected by Weaver syndrome, including one of the original families reported in 1974. Filtering of rare variants in the affected probands against the parental variants identified two different de novo mutations in the enhancer of zeste homolog 2 (EZH2). Sanger sequencing of EZH2 in a third classically-affected proband identified a third de novo mutation in this gene. These data show that mutations in EZH2 cause Weaver syndrome. ...[more]
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