Mutations in EZH2 cause Weaver syndrome.
other · Level V
Where this comes from
- Record sourced from PubMed, PMID 22177091.
- Also identified by DOI 10.1016/j.ajhg.2011.11.018 and PMC identifier 3257956.
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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.
Medical subject headings
- Abnormalities, Multiple
- Congenital Hypothyroidism
- Craniofacial Abnormalities
- DNA-Binding Proteins
- Hand Deformities, Congenital
- Mutation
- Transcription Factors