EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome.

American Journal of Medical Genetics. Part a
Sara GriffithsKatrina Tatton-Brown

Abstract

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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Citations

Nov 15, 2019·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Sharri CyrusWilliam T Gibson
Nov 19, 2019·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Sharri S CyrusWilliam T Gibson
Dec 4, 2019·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Deepika D BurkardtJohn M Graham
Nov 17, 2020·Frontiers in Pediatrics·Joshua Manor, Seema R Lalani
Aug 25, 2021·Trends in Genetics : TIG·Simone TamburriDiego Pasini
Sep 18, 2021·American Journal of Medical Genetics. Part a·Katalin L M L HetzeltChristiane Zweier

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