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

Turk J Pediatr. 2014 May-Jun;56(3):327-9.

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.

MeSH terms

  • Bloom Syndrome / genetics*
  • Chromosomes, Human, X / genetics*
  • Genomic Instability / physiology*
  • Humans
  • Mutation
  • RecQ Helicases / genetics

Substances

  • RecQ Helicases