Department of Clinical Genetics, St George's University of London, London, United Kingdom.
Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, United Kingdom.
Am J Med Genet A. 2019 Apr;179(4):588-594. doi: 10.1002/ajmg.a.61066. Epub 2019 Feb 21.
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.
过度生长-智力残疾（OGID）综合征的特征是生长过度（身高和/或头围≥+2SD），同时伴有智力残疾。以前曾在五名具有 OGID 综合征的个体中报道过组成性 EED 变异，命名为 Cohen-Gibson 综合征，类似于 Weaver 综合征。在这里，我们报告了另外三名通过 OGID 患者系列的外显子组测序鉴定出的具有组成性 EED 变异的个体。我们将 EED 表型与由组成性 EZH2 变异引起的 Weaver 综合征（56 名个体）进行了比较。我们的结论是，虽然 EED 和 EZH2 表型之间有很大的重叠，两者都与生长过度和智力残疾有关，但 EED 变异个体更频繁地出现心脏问题和颈椎异常，男孩有隐睾症，面部特征通常可以区分。
