Table 2.

H3K36 methyltransferases and their roles in diseases

Gene	Diseases	Molecular defects	Phenotypes	Refs
NSD1	Sotos syndrome	Haploinsufficiency, point mutations, deletions, translocations	Macrocephaly, hypertolerism, cognitive and/or motor skill deficiencies	98
NSD1	Myelodysplastic syndrome	Translocations	Anaemia, cytopenia	111
NSD1	Cancers: AML, prostate, neuroblastoma, breast	Overexpression, gene silencing, translocations	Numerous tumour types	19,78,101, 110,112
NSD2	Wolf–Hirschhorn syndrome	Deletions	Learning difficulties, microcephaly, heart defects	32
NSD2	Multiple myeloma	t(4;14)+ translocation	Renal failure, anaemia, bone lesions	30,115
NSD3	Breast cancer	Gene amplification at 8p11	Solid tumours	107
NSD3	AML	Translocations	Leukaemic cells in bone marrow	105
NSD3	Myelodysplastic syndrome	Translocations	Anaemia, cytopenia	106
SETD2	Renal cell carcinoma	Deletions, missense mutations	Haematuria, flank pain	99

The table lists the known diseases resulting from alterations in the genes encoding enzymes that are specific for Lys36 on histone H3 (H3K36). AML, acute myeloid leukaemia; NSD, nuclear receptor SET domain-containing; SETD2, SET domain-containing 2.