title: A novel mutation in EED associated with overgrowth.
abstract: In a patient suspected clinically to have Weaver syndrome, we ruled out mutations in EZH2 and NSD1, then identified a previously undescribed de novo mutation in EZH2's partner protein EED. Both proteins are members of the Polycomb Repressive Complex 2 that maintains gene silencing. On the basis of the similarities of the patient's phenotype to Weaver syndrome, which is caused by de novo mutations in EZH2, and on other lines of evidence including mouse Eed hypomorphs, we characterize this mutation as probably pathogenic for a Weaver-like overgrowth syndrome. This is the first report of overgrowth and related phenotypes associated with a constitutional mutation in human EED.
authors: 1] Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada [2] Child and Family Research Institute, British Columbia Children's Hospital, Vancouver, BC, Canada.
authors: Ana S A
authors: AS
authors: Cohen
authors: Department of Pediatric Genetics, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey.
authors: Beyhan
authors: B
authors: Tuysuz
authors: Canada's Michael Smith Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, BC, Canada.
authors: Yaoqing
authors: Y
authors: Shen
authors: Department of Radiology, Surrey Memorial Hospital, Surrey, BC, Canada.
authors: Sanjiv K
authors: SK
authors: Bhalla
authors: 1] Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada [2] Canada's Michael Smith Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, BC, Canada [3] Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, BC, Canada.
authors: Steven J M
authors: SJ
authors: Jones
authors: 1] Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada [2] Child and Family Research Institute, British Columbia Children's Hospital, Vancouver, BC, Canada.
authors: William T
authors: WT
authors: Gibson
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D003409:Congenital Hypothyroidism / Q000175:diagnosis* / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000235:genetics; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D006130:Growth Disorders / Q000175:diagnosis* / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D063151:Polycomb Repressive Complex 2 / Q000235:genetics*
chemical_list: C491488:EED protein, human; D063151:Polycomb Repressive Complex 2