The X chromosome: does it have a role in Bloom syndrome, a genomic instability disorder?

  • Deniz Aslan
  • Published 2014 in The Turkish journal of pediatrics

Abstract

The Bloom syndrome, caused by mutations in a single gene [BLM (15q26.1)], is a rare genomic instability syndrome. Despite its autosomal recessive transmission, it shows a male dominance, suggesting the possibility of a subgroup with X-linked recessive inheritance. In view of the latest molecular developments achieved in the other genomic instability syndromes, the potential functions of the X chromosome in maintaining genomic stability, and particularly, the first clues of Bloom syndrome development by mechanisms other than the BLM, we suggest herein that the X chromosome should be investigated in Bloom syndrome.

Cite this paper

@article{Aslan2014TheXC, title={The X chromosome: does it have a role in Bloom syndrome, a genomic instability disorder?}, author={Deniz Aslan}, journal={The Turkish journal of pediatrics}, year={2014}, volume={56 3}, pages={327-9} }