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. Author manuscript; available in PMC: 2013 Aug 1.
Published in final edited form as: Nat Med. 2012 Aug;18(8):1194–1204. doi: 10.1038/nm.2828

Table 1.

Monogenetic brain disorders associated with DNA methylation and histone modification defects

Gene (OMIN*) Function Syndrome(s) OMIM #
(disease)
ATRX (Xq21.1) *300032 Replication-independent nucleosome remodeling and histone H3.3 incorporation Alpha-thalassaemia, X-linked with mental retardation (ATRX), autism40 #301040
CREBBP (16p13.3) *600140
EP300 (22q13.2) *602700		 Transcriptional co-activator, histone acetyl-transferase Rubinstein-Taybi syndrome (RSTS) 1 and 2105 RSTS1/#180849
RSTS2/#613684
DNMT1 (19p13.2) *126375 DNA methyltransferase. Disease mutations are associated with hypomethylated repeats and promoters Hereditary hensory and autonomic neuropathy type 1 with adult-onset dementia (HSAN1E)5, autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN)6. #614116
DNMT3B (20q11.21) *602900 DNA methyltransferase. Disease mutations are associated with hypomethylation of pericentric repeats Immunodeficiency, centromere instability, facial anomalies (ICF1) mental retardation syndrome28,106 #242860
ZBTB24 (6q21) *614064 Transcriptional repressor and regulator of DNA methylation at pericentric repeats Immunodeficiency, centromere Instability, facial anomalies (ICF2) mental retardation syndrome28,29 #614069
KDM5C (Xp11.22)/JARID1C *314690 Histone H3-lysine 4 demethylase X-linked mental retardation107, autism108 #300534
KMT1D (9q34.3) (also:EHMT1) *607001 Histone H3-lysine 9 methyltransferase Kleefstra (mental retardation) syndrome109, schizophrenia110, non-specific psychiatric phenotypes and neurodegenerative disease in post-adolescence period111 #610253
KMT3B (5q35.2-q35.3) (also NSD1) *606681 Histone H3-lysine 36 and H4-lysine 20 methyltransferase Sotos (mental retardation) syndrome112 #117550
PHF8 (Xp11.22) *300560 Histone H3-lysine 9 demethylase and transcriptional activator X-linked mental retardation withoutcleft lip and/or palate (Siderius-Hamel)113,114 #300263
RSK2 (Xp22.12) *300075 Serine/threonine kinase (of both histones and non-histone proteins) Coffin-Lowry X-linked mental retardation syndrome115 #303600
MECP2 (Xq28) *300005 Methyl CpG binding protein Rett and other neurodevelopmental syndromes, autism116 #312750