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. 2021 Nov 3;15:776809. doi: 10.3389/fnins.2021.776809

TABLE 2.

Overview of epigenetic key players associated to different NDDs as revealed from studies in humans and mice.

Diagnosis Critical epigenetic regulator/interaction
Angelman syndrome (AS) miR-708°Maranga et al., 2020 MECP2*Williams et al., 2010; Mastrototaro and Sessa, 2018; Maranga et al., 2020 SETDB1* Zhu et al., 2020
Anxiety disorder DNMT1°Hutnick et al., 2009; Noguchi et al., 2016
ATR-X syndrome H3K9me3* Mastrototaro and Sessa, 2018 MECP2* Bérubé et al., 2005; Nan et al., 2007
Autism spectrum disorder (ASD) SETD2* Mastrototaro and Sessa, 2018 ANKRD11, HDAC3°Gallagher et al., 2015; Ockeloen et al., 2015; Mastrototaro and Sessa, 2018; Deurloo et al., 2019; Little and Dwyer, 2019 BAF complexes* Mastrototaro and Sessa, 2018 ST7OT1-3, ST7OT1-4* Vincent et al., 2002 SETDB1* Cukier et al., 2012; Zhu et al., 2020 MECP2, MDB5/6* Cukier et al., 2012
Down syndrome (DS) MECP2 Patkee et al., 2020 miR155, miR802, miR125b* Siew et al., 2013 NRON°Willingham et al., 2005; Arron et al., 2006
Epilepsy (chronic) DNMT1/3A* Henshall and Kobow, 2015; Dixit et al., 2018 miR-17∼˜92 cluster, miR-21, miR-155, miR-4521, miR-323a-5p, let-7f, miR-31, miR-34a* Dixit et al., 2018
Fragile-X syndrome miR-19b, miR-92b, miR-125b, miR-132, miR-302b, miR-323-3p, miR-363, miR-367* Siew et al., 2013
ICF syndrome DNMT3B*/°Miniou et al., 1997; Kondo et al., 2000; Jin et al., 2008
Kabuki syndrome KMT2D*/°Gabriele et al., 2018 KDM6A* Gabriele et al., 2018
Kleefstra syndrome (KS) EHMT1, EHMT2* Mastrototaro and Sessa, 2018 EZH2* Mastrototaro and Sessa, 2018 MML3, NR1I3, SMARCB1, MBD5* Mastrototaro and Sessa, 2018
Luscan-Lumish syndrome SETD2*/°Lumish et al., 2015; Gabriele et al., 2018; van Rij et al., 2018; Rabin et al., 2020
Major depression disorder SETDB1°Zhu et al., 2020
Prader-Willi syndrome (PW) SETDB1°Zhu et al., 2020
Rett syndrome (RTT) MECP2*/°Mastrototaro and Sessa, 2018; Pejhan et al., 2020 miR30a, miR381, miR495°Wu et al., 2010 miR132* Pejhan et al., 2020 AK081227 and AK087060°Petazzi et al., 2013
Schizophrenia (SZ) DNMT1/3a°Kirkbride et al., 2012; Matrisciano et al., 2013 SETDB1*/°Zhu et al., 2020
Tatton-Brown-Raham syndrome (TBRS) DNMT3A* Lane et al., 2020; Yokoi et al., 2020
Van-Maldergem syndrome (VMS) TET1°Cappello et al., 2013
Weaver syndrome (WS) EZH2* Al-Salem et al., 2013; Lane et al., 2020 NSD1* Al-Salem et al., 2013; Paradowska-Stolarz, 2014; Donovan and Basson, 2017
Williams-Beuren syndrome (WBS) SETD2* Mastrototaro and Sessa, 2018 LSD1/KDM1A, HDAC2* Mastrototaro and Sessa, 2018; Deurloo et al., 2019
Wolf-Hirschhorn syndrome (WHS) NSD2°Riazi et al., 2005; Nimura et al., 2009

Annotation: *shown in human, °shown in mice.