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GENATLAS PHENOTYPE

last update : 24-08-2016

Symbol	BMFS3
Location	5p13.2
Name	bone marrow failure syndrome 3
Corresponding gene	DNAJC21
Main clinical features	hematopoietic defect in association with a range of variable extra hematopoietic features global bone marrow failure associated with a reduction in all cell lineages in the peripheral blood; peripheral pancytopenia and intrauterine growth restriction and/or short stature; this disorder is associated with cancer predisposition
Genetic determination	autosomal recessive
Function/system disorder	hematology
	osteo-articular
Type	disease

Remark(s)

. DNAJC21 deficiency resulted in cytoplasmic accumulation of the 60S nuclear export factor PA2G4, aberrant ribosome profiles, and increased cell death, and cause a cancer-prone BMF syndrome due to corruption of early nuclear rRNA biogenesis and late cytoplasmic maturation of the 60S subunit (PMID: 27346687))