Mutations in EZH2 Cause Weaver Syndrome

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• 作者：William  ; T. Gibson¹ ; ² ; ^{wtgibson@cfri.ubc.ca} ; Rebecca  ; L. Hood³ ; ⁴ ; Shing  ; Hei Zhan⁵ ; Dennis  ; E. Bulman⁴ ; Anthony  ; P. Fejes⁵ ; Richard Moore⁵ ; Andrew  ; J. Mungall⁵ ; Patrice Eydoux¹ ; ⁶ ; Riyana Babul-Hirji⁷ ; Jianghong An⁵ ; Marco  ; A. Marra¹ ; ⁵ ; FORGE Canada Consortium¹² ; David Chitayat⁷ ; ⁸ ; Kym  ; M. Boycott⁹ ; David  ; D. Weaver¹⁰ ; Steven  ; J.M. Jones¹ ; ⁵ ; ¹¹
• 刊名：The American Journal of Human Genetics
• 出版年：2012
• 出版时间：13 January 2012
• 年：2012
• 卷：90
• 期：1
• 页码：110-118
• 全文大小：1025 K

文摘

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.