title: Novel EED mutation in patient with Weaver syndrome.
abstract: Weaver syndrome is a rare condition characterized by overgrowth, macrocephaly, accelerated osseous maturation, variable intellectual disability, and characteristic facial features. Pathogenic variants in EZH2, a histone methyltransferase, have previously been identified as a cause of Weaver syndrome. However, the underlying molecular cause in many patients remains unknown. We report a patient with a clinical diagnosis of Weaver syndrome whose exome was initially non-diagnostic. Reports in the medical literature of EED associated overgrowth prompted re-analysis of the patient's original exome data. The patient was found to have a likely pathogenic variant in EED. These findings support that Weaver syndrome is a disorder with locus heterogeneity and can be due to pathogenic variants in either EZH2 or EED. This case highlights the utility of exome sequencing as a clinical diagnostic tool for novel gene discovery as well as the importance of re-examination of exome data as new information about gene-disease associations becomes available. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.|Department of Pediatrics, Baylor College of Medicine, Houston, Texas.|Texas Children's Hospital, Houston, Texas.
authors.forename: Erin
authors.initials: E
authors.lastname: Cooney
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
authors.forename: Weimin
authors.initials: W
authors.lastname: Bi
authors.affiliation: Texas Children's Hospital, Houston, Texas.|Department of Pediatric Radiology, Texas Children's Hospital, Houston, Texas.
authors.forename: Alan E
authors.initials: AE
authors.lastname: Schlesinger
authors.affiliation: Department of Pediatrics, Baylor College of Medicine, Houston, Texas.|Texas Children's Hospital, Houston, Texas.|The Meyer Center for Developmental Pediatrics, Texas Children's Hospital, Houston, Texas.
authors.forename: Sherry
authors.initials: S
authors.lastname: Vinson
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.|Texas Children's Hospital, Houston, Texas.
authors.forename: Lorraine
authors.initials: L
authors.lastname: Potocki
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D003409:Congenital Hypothyroidism / Q000175:diagnosis* / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000235:genetics*; D019066:Facies; D005260:Female; D056726:Genetic Association Studies; D006228:Hand Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007223:Infant; D009154:Mutation; D010641:Phenotype; D010808:Physical Examination; D063151:Polycomb Repressive Complex 2 / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: C491488:EED protein, human; D063151:Polycomb Repressive Complex 2
keywords: EED; Weaver syndrome; embryonic ectoderm development; exome sequencing; overgrowth