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GENATLAS PHENOTYPE
last update : 02-09-2015
Symbol BLMS
Location 15q26.1
Name Bloom syndrome
Corresponding gene BLM
Other symbol(s) BLS
Main clinical features
  • dwarfism, sun sensitivity, immunodeficiency and a high risk for various cancers, breakage syndrome with increased chromosomal instability, sister chromatide exchanges and quadriradial chromosomes
  • exhibit elevated frequencies of sister chromatid exchanges (SCEs), interchanges between homologous chromosomes (mitotic chiasmata), and sensitivity to several DNA-damaging agents (Otsuki 2007)
  • not only elevated levels of spontaneous sister chromatid exchanges (SCEs), but also exhibit chromosomal radial formation (PMID: 25766002))
    • Genetic determination autosomal recessive
    Function/system disorder multisystem/generalized
    defense and immunity
    Type chromosomal instability syndrome
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function mutants having low ATPase and helicase activities but their ATP binding abilities were normal
    Remark(s)
  • putative DNA helicase (BLM), leading to defective DNA repair in rapidly proliferating cells during DNA replication, or facture in postreplicational genomic maintenance
  • NEMO (IKBKG) shuttle may link genotoxic stress to the activation of innate immunity system and cause premature aging via inflamm-aging process
  • cells lacking functional BLM show 10-fold elevated rates of sister chromatid exchange (Killen 2009)