title: Mutations in EZH2 cause Weaver syndrome.
abstract: 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.
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, Canada. wtgibson@cfri.ubc.ca
authors.forename: William T
authors.initials: WT
authors.lastname: Gibson
authors.forename: Rebecca L
authors.initials: RL
authors.lastname: Hood
authors.forename: Shing Hei
authors.initials: SH
authors.lastname: Zhan
authors.forename: Dennis E
authors.initials: DE
authors.lastname: Bulman
authors.forename: Anthony P
authors.initials: AP
authors.lastname: Fejes
authors.forename: Richard
authors.initials: R
authors.lastname: Moore
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Mungall
authors.forename: Patrice
authors.initials: P
authors.lastname: Eydoux
authors.forename: Riyana
authors.initials: R
authors.lastname: Babul-Hirji
authors.forename: Jianghong
authors.initials: J
authors.lastname: An
authors.forename: Marco A
authors.initials: MA
authors.lastname: Marra
authors.forename: David
authors.initials: D
authors.lastname: Chitayat
authors.forename: Kym M
authors.initials: KM
authors.lastname: Boycott
authors.forename: David D
authors.initials: DD
authors.lastname: Weaver
authors.forename: Steven J M
authors.initials: SJ
authors.lastname: Jones
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D003409:Congenital Hypothyroidism / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics*; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D000071221:Enhancer of Zeste Homolog 2 Protein; D059472:Exome; D005260:Female; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D063151:Polycomb Repressive Complex 2; D014157:Transcription Factors / Q000235:genetics*; D055815:Young Adult
chemical_list: D004268:DNA-Binding Proteins; D014157:Transcription Factors; C498409:EZH2 protein, human; D000071221:Enhancer of Zeste Homolog 2 Protein; D063151:Polycomb Repressive Complex 2