Table 2.

Cancer predisposition and bone marrow failure in ribosomopathies.

Disease	Gene	Gene function	p53 activation	Cancer predisposition	BMFS	Other clinical features
Cartilage–hair hypoplasia	RMRP	RNase MRP in processing the A3 site of pre-rRNA, a component of the RMRP-TERT complex	?	Non-Hodgkin's lymphoma and basal cell carcinoma	Macrocytic anemia and defective proliferation of T- and/or B-cells	Dwarfism and hypoplastic hair
5q− syndrome	RPS14	pre-rRNA processing of the 18S rRNA, formation of the 40S ribosome subunit	Yes	Acute myeloid leukemia	Macrocytic anemia	Hypolobulated micromegakaryocytes
Diamond–Blackfan anemia	RPS19 and other ribosomal protein genes	pre-rRNA processing of the 18S rRNA, formation of the 40S or 60S ribosome subunit	?	Acute myeloid leukemia and osteosarcoma	Macrocytic anemia and myelodysplastic syndrome	Growth retardation and craniofacial defects
Shwachman–Diamond syndrome	SBDS	60S ribosome subunit joining/transportation	?	Acute myeloid leukemia	Anemia and thrombocytopenia	Pancreatic insufficiency, growth defect, and neutropenia
X-linked dyskeratosis congenita	DKC1	rRNA modification (pseudo-uridylation), a component of telomerase	?	Acute myeloid leukemia and head and neck tumors	Cytopenias in the bone marrow	Oral leukoplakia, abnormal skin pigmentation, and nail dystrophy
Treacher Collins syndrome	TCOF1	Transcription of ribosomal DNA and methylation of rRNA	Yes	None reported	No hematologic abnormalities	Craniofacial defects