Table 1.

List of epigenetic regulators implicated in human growth disorders.

Epigenetic modifications	Gene	Function	Human disorder (s)	Growth phenotype	Gene (s) or pathway(s) involved?
Histone Acetylation	(Writers)
	P300	Histone acetyltransferase	Rubinstein-Taybi syndrome (OMIM 180849)	Short stature	SOX9,COL2A1
	CBP	Histone acetyltransferase	Menke-Hennekam syndrome (OMIM 618332)	Short stature
	KAT6B	Histone acetyltransferase	SBBYS syndrome (OMIM 603736)	Short stature
	(Erasers)
	HDAC4	Histone deacetylase	BDMR syndrome (OMIM 600430)	Short stature	RUNX2, MEF2C
	HDAC8	Histone deacetylase	Cornelia de Lange Syndrome 5 (OMIM 300882)	Short stature	SMC3
Histone Methylation	(Writers)
H3K4	KMT2D	Histone methyltransferase	Kabuki syndrome 1 (OMIM 147920)	Short stature	SHOX2, SOX9
H3K4	KMT2A	Histone methyltransferase	Wiedemann-Steiner Syndrome (OMIM 605130)	Short stature
H3K36	NSD1	Histone methyltransferase	Sotos syndrome (OMIM 117550)	Overgrowth	SOX9, Hif1α
H3K36	SETD2	Histone methyltransferase	Luscan-Lumish syndrome (OMIM 616831)	Overgrowth
H3K27	EZH2	PRC2 complex component	Weaver syndrome (OMIM 277590)	Overgrowth	IGF signaling
H3K27	EED	PRC2 complex component	Cohen-Gibson syndrome (OMIM 617561)	Overgrowth	WNT, TGF-β
H3K27	SUZ12	PRC2 complex component	Imagawa-Matsumoto syndrome (OMIM 618786)	Overgrowth
	(Erasers)
H3K9	KDM3B	Histone demethylase	Diets Jongmans syndrome (OMIM 618846)	Short stature
H3K4	KDM6A	Histone demethylase	Kabuki syndrome 2 (OMIM 300867)	Short stature
	(Readers)
H3K4	SPIN4	Binds methylated histones	Lui-Jee-Baron syndrome (OMIM 301114)	Overgrowth	WNT signaling
DNA methylation	(Writers)
	DNMT3A	DNA methyltransferase	Tatton Brown Rahman syndrome (OMIM 615879)	Overgrowth
	(Readers)
	MECP2	Binds methylated DNA	Rett Syndrome (OMIM 312750)	Short stature
Others	CHD8	Chromatin remodeler	IDDAM syndrome (OMIM 615032)	Overgrowth
	miR-140	Non-coding RNA	Spondyloepiphyseal dysplasia (OMIM 618618)	Short stature	BMPs, Hif1α