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: Erin Cooney, Weimin Bi, Alan E Schlesinger, Sherry Vinson, Lorraine Potocki
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 173 Issue 2 Pg. 541-545 (Feb 2017) ISSN: 1552-4833 [Electronic] United States
• PMID: 27868325 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2016 Wiley Periodicals, Inc.

Chemical References

• EED protein, human
• Polycomb Repressive Complex 2

Topics

• Abnormalities, Multiple (diagnosis, genetics)
• Comparative Genomic Hybridization
• Congenital Hypothyroidism (diagnosis, genetics)
• Craniofacial Abnormalities (diagnosis, genetics)
• Facies
• Female
• Genetic Association Studies
• Hand Deformities, Congenital (diagnosis, genetics)
• Humans
• Infant
• Mutation
• Phenotype
• Physical Examination
• Polycomb Repressive Complex 2 (genetics)
• Sequence Analysis, DNA