期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 179, 期 4, 页码 588-594出版社
WILEY
DOI: 10.1002/ajmg.a.61066
关键词
Cohen-Gibson; EED; EZH2; intellectual disability; overgrowth; Weaver
资金
- Wellcome Trust [100210]
- Institute of Cancer Research
- Child Growth Foundation [GR01/13]
- Royal Marsden NHS Foundation Trust/ICR NIHR Biomedical Research Centre
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.
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