A novel mutation in EED associated with overgrowth

Journal of Human Genetics
Ana S A CohenWilliam T Gibson

Abstract

In a patient suspected clinically to have Weaver syndrome, we ruled out mutations in EZH2 and NSD1, then identified a previously undescribed de novo mutation in EZH2's partner protein EED. Both proteins are members of the Polycomb Repressive Complex 2 that maintains gene silencing. On the basis of the similarities of the patient's phenotype to Weaver syndrome, which is caused by de novo mutations in EZH2, and on other lines of evidence including mouse Eed hypomorphs, we characterize this mutation as probably pathogenic for a Weaver-like overgrowth syndrome. This is the first report of overgrowth and related phenotypes associated with a constitutional mutation in human EED.

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Citations

Jul 27, 2015·Pharmacology & Therapeutics·Simone S RiedelKathrin M Bernt
May 20, 2016·Journal of Human Genetics·Ana Sa Cohen, William T Gibson
Sep 2, 2016·Wiley Interdisciplinary Reviews. Developmental Biology·Steven T Poynter, Cigall Kadoch
Nov 22, 2016·American Journal of Medical Genetics. Part a·Erin CooneyLorraine Potocki
Jun 19, 2016·Journal of Medical Genetics·Camille TlemsaniLydie Burglen
Feb 24, 2017·Human Mutation·Eri ImagawaNaomichi Matsumoto
Jul 1, 2017·International Journal of Molecular Sciences·Jeong-Hoon KimKyoung Sang Cho
Dec 16, 2017·The Journal of Clinical Endocrinology and Metabolism·Julian C LuiJeffrey Baron
Jul 19, 2018·Clinical Genetics·Eri ImagawaNaomichi Matsumoto
Oct 3, 2019·Development·Orla Deevy, Adrian P Bracken
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
Jul 15, 2018·Clinical Epigenetics·Lexie ProkopukPatrick S Western
Mar 13, 2019·Journal of Human Genetics·Catherine J SpellicyJulie R Jones
Jan 8, 2019·F1000Research·Ellen G JarredPatrick S Western
Feb 23, 2019·American Journal of Medical Genetics. Part a·Sara GriffithsKatrina Tatton-Brown
Mar 8, 2019·Nature Reviews. Endocrinology·Frédéric BrioudeIrene Netchine
Dec 13, 2019·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Cheryl CytrynbaumRosanna Weksberg
Aug 28, 2020·Cold Spring Harbor Molecular Case Studies·Daniel Gamu, William T Gibson
Sep 22, 2018·BMC Biology·Jessica M StringerPatrick S Western
Dec 3, 2020·Cellular and Molecular Life Sciences : CMLS·Britt MossinkNael Nadif Kasri
Nov 2, 2020·Epigenetics & Chromatin·Yiqi Yang, Gang Li
Apr 4, 2020·American Journal of Human Genetics·Sanaa ChoufaniRosanna Weksberg
Jul 2, 2021·Frontiers in Endocrinology·Birgit WeissGudrun A Rappold
Sep 18, 2021·American Journal of Medical Genetics. Part a·Katalin L M L HetzeltChristiane Zweier
Oct 6, 2021·Nature Reviews. Genetics·Sanne M Janssen, Matthew C Lorincz

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