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GENATLAS PHENOTYPE
last update : 11-10-2010
Symbol FANCJ
Location 17q23.2
Name Fanconi anemia, complementation groupe J
Corresponding gene BRIP1
Main clinical features
  • progressive bone marrow failure (pancytopenia),
  • skin pigmentary changes, short stature, upper limb malformations and other physical abnormalities
  • increased risk of hematologic and non-hematologic malignancies
  • endocrine dysfunction , early onset osteopenia/osteoporosis and lipid abnormalities
  • spontaneous chromosomal breakage exacerbated by exposure to DNA cross-linking agents
    • Genetic determination autosomal recessive
    Function/system disorder hematology
    osteo-articular
    Type chromosomal instability syndrome
    Gene product
    Name BRCA1-interacting helicase
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense   truncated protein in exon 7, affecting the helicase motif 6
    Remark(s)
  • cellular defects associated with FANCJ mutation extend beyond the reduced ability to repair ICLs (interstrand cross-link ) and involve other types of DNA structural roadblocks to replication (PMID: 18426915))
    • Genotype/Phenotype correlations heterozygosity for FANCJ/BRIP1 mutations is associated with an increased susceptibility to breast cancer