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Fanconi anemia, complementation group J (FANCJ)

Fanconi anemia of complementation group J (FANCJ) is caused by homozygous or compound heterozygous mutation in the BRIP1 gene (605882) on chromosome 17q22.
Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair.

ABREVIATION(S):
FANCJ
FAJ
FA-J

TYPE: skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure

Related patway(s): Fanconi anemia (FA) pathway

DNAtraffic protein(s) related to disease: BACH1/BRIP1 (FANCJ)

OMIM: 609054

Last modification date: Aug. 21, 2011