Epigenetics of cognition and behavior: insights from Mendelian disorders of epigenetic machinery

Ng, Rowena; Kalinousky, Allison; Harris, Jacqueline

doi:10.1186/s11689-023-09482-0

Journal of Neurodevelopmental Disorders

Table 1 MDEM genes associated with neurodevelopmental disabilities and reported neurobehavioral phenotypes

From: Epigenetics of cognition and behavior: insights from Mendelian disorders of epigenetic machinery

Gene	Primary mechanism	Function	Dual function?	ID/DD	ADHD	Anxiety	Hypotonia	Other behavior problems
ALG13	Reader	HMR		X			X	Stereotypies, limited reports of SIB
ASH1L	Writer	HMT/HMR and HAR	X	X	X	X	X	ASD, SIB
ASXL1	Reader	HMR		X			X
ASXL2	Reader	HMR		X	X		X	ASD
ASXL3	Reader	HMR		X			X	Stereotypies, autistic features, aggression
ATRX	Remodeler	RE/HMR	X	X	X		X
BPTF	Reader	HMR and HAR		X		X	X
BRPF1	Reader	HMR and HAR		X	X		X
BRWD3	Reader	HMR and HAR		X			X	Aggression, autistic features
CHD1	Remodeler	RE/HMR	X	X			X	Autistic features
CHD2	Remodeler	RE/HMR	X	X	X
CHD3	Remodeler	RE/HMR	X	X			X	Stereotypies
CHD4	Remodeler	RE/HMR	X	X
CHD5	Remodeler	RE/HMR	X	X	X		X	Aggression, disruption
CHD7	Remodeler	RE/HMR	X	X			X	ASD, aggression, SIB, OCD
CHD8	Remodeler	RE/HMR	X	X	X	X	X	ASD, aggression, SIB
CREBBP	Writer	HAT/HAR	X	X	X	X	X	Repetitive behavior, aggression, SIB, OCD
DNMT3A	Writer	DNMT/HMR	X	X	X	X	X	ASD
DPF2	Reader	HAR		X			X	Behavioral prob NOS
EED	Reader	HMR		X			X
EHMT1	Writer	HMT/HMR	X	X		X	X	ASD, aggression
EP300	Writer	HAT/HAR	X	X	X	X	X	Repetitive behavior, aggression, SIB, OCD
EZH2	Writer	HMT		X		X	X	ASD
HDAC4	Eraser	HDAC		X			X
HDAC6	Eraser	HDAC		X
HDAC8	Eraser	HDAC		X	X			ASD, aggression, SIB
KAT5	Writer	HAT		X	X			Stereotypies
KAT6A	Writer	HAT/HAR	X	X			X
KAT6B	Writer	HAT/HAR	X	X			X
KAT8	Writer	HAT		X	X		X	ASD
KDM1A	Eraser	HDM		X			X
KDM3B	Eraser	HDM		X	X		X	ASD
KDM4B	Eraser	HDM/HMR	X	X	X		X	OCD
KDM5B	Eraser	HDM/HMR	X	X	X		X
KDM5C	Eraser	HDM/HMR	X	X	X	X	X	Aggression, repetitive behaviors, stereotypies
KDM6A	Eraser	HDM		X	X	X	X
KDM6B	Eraser	HDM		X	X		X	ASD
KMT2A	Writer	HMT/HMR and HAR and DNUMR	X	X	X	X	X	Repetitive behaviors, OCD, aggression
KMT2B	Writer	HMT/HMR and DNUMR	X	X	X		X	ASD, stereotypies
KMT2C	Writer	HMT/HMR	X	X	X		X	ASD, aggression
KMT2D	Writer	HMT/HMR	X	X	X	X	X	OCD, stereotypies
KMT2E	Writer	HMT/HMR	X	X	X	X	X	ASD, aggression, SIB, Stereotypies
KMT5B	Writer	HMT		X	X		X	ASD
MBD5	Reader	HMR and DNMR		X	X	X	X	ASD, Aggression, SIB, Stereotypies
MECP2	Reader	DNMR		X		X	X	ASD, aggression, SIB, repetitive behavior, stereotypies
MORC2	Reader	HMR		X			X
MSL3	Reader	HMR		X			X	ASD
NSD1	Writer	HMT/HMR	X	X	X	X	X	ASD, aggression, repetitive behavior, OCD
PHF21A	Reader	HMR		X	X	X	X	ASD, SIB
PHF6	Reader	HMR		X			X
PHF8	Eraser	HDM/HMR	X	X				ASD
PHIP	Reader	HMR and HAR		X	X	X	X	ASD, aggression, stereotypies
PRDM13	Writer	HMT		X
PRDM8	Writer	HMT		X
RAI1	Reader	HMR		X	X	X	X	Aggression, OCD
RERE	Reader	HMR		X			X	ASD, behavior problems NOS
SETD1A	Writer	HMT		X	X	X	X	Aggression, OCD
SETD1B	Writer	HMT		X		X		ASD
SETD2	Writer	HMT		X	X	X	X	ASD, aggression, OCD
SETD5	Writer	HMT		X		X	X	ASD, stereotypies, OCD
SMARCA2	Remodeler	RE/HAR	X	X
SMARCA4	Remodeler	RE/HAR	X	X	X		X	Repetitive behaviors, stereotypies
SRCAP	Remodeler	RE		X	X	X	X	ASD, aggression, mood disorders
TCF20	Reader	HMR		X	X	X	X	ASD, mood disorders
TET3	Eraser	DNME		X	X	X	X	ASD, stereotypies
UBR7	Reader	HMR		X			X
WHSC1 (NSD2)	Writer	HMT/HMR	X	X	X	X	X	ASD, stereotypies
ZMYND11	Reader	HMR and HAR		X	X		X	ASD, aggression

ADHD attention deficit hyperactivity disorder, ASD autism spectrum disorder, DNME DNA methylation eraser, DNMR DNA methylation reader, DNMT DNA methyltransferase, HAR histone acetyl group reader, HAT histone acetyltransferase, HDM histone demethylase, HMR histone methyl group reader, HMT histone methyltransferase, ID/DD intellectual disability/developmental disability, OCD obsessive compulsive disorder, RE chromatin remodeler, SIB self-injurious behavior

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ISSN: 1866-1955

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