Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 179, Issue 4, Pages 588-594Publisher
WILEY
DOI: 10.1002/ajmg.a.61066
Keywords
Cohen-Gibson; EED; EZH2; intellectual disability; overgrowth; Weaver
Categories
Funding
- Wellcome Trust [100210]
- Institute of Cancer Research
- Child Growth Foundation [GR01/13]
- Royal Marsden NHS Foundation Trust/ICR NIHR Biomedical Research Centre
Ask authors/readers for more resources
Overgrowth-intellectual disability (OGID) syndromes are characterized by increased growth (height and/or head circumference >=+2 SD) in association with an intellectual disability. Constitutive EED variants have previously been reported in five individuals with an OGID syndrome, eponymously designated Cohen-Gibson syndrome and resembling Weaver syndrome. Here, we report three additional individuals with constitutive EED variants, identified through exome sequencing of an OGID patient series. We compare the EED phenotype with that of Weaver syndrome (56 individuals), caused by constitutive EZH2 variants. We conclude that while there is considerable overlap between the EED and EZH2 phenotypes with both characteristically associated with increased growth and an intellectual disability, individuals with EED variants more frequently have cardiac problems and cervical spine abnormalities, boys have cryptorchidism and the facial gestalts can usually be distinguished.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available