Table 5.

Summary of disease-related DNMT and TET mutations.

Protein	Disease	Alteration	Reference
DNMT1	Hereditary sensory autonomic neuropathy with dementia and hearing loss (HSAN1E)	Y495C, Y495H, D490E-P491Y	Klein et al., 2011, 2013
DNMT1	Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN)	A570V, G605A, and V606F	Winkelmann et al., 2012
DNMT3A	Acute myeloid leukemia (AML) myelodysplastic syndrome (MDS)	R882 and frameshift, nonsense and splice site mutations	Ley et al., 2011; Walter et al., 2011
DNMT3A	Overgrowth syndrome	Mutations interfere with domain–domain interactions and histone binding	Tatton-Brown et al., 2014
DNMT3B	Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF) syndrome	Mutations in catalytic domain	Hansen et al., 1999; Xu et al., 1999
TET1	AML	Ten-eleven translocation that gives rise to a MLL-TET1 fusion	Lorsbach et al., 2003
TET2	AML, MDS, and myeloproliferative neoplasms	Mutations mostly in catalytic domain	Abdel-Wahab et al., 2009