Only one homozygous mutation has been identified in the RECQL1 gene, which does not affected protein stability or cellular localisation. The underlying pathophysiological mechanism of disease is an increase in cellular replication stress caused by an inability of cells with mutations in RECQL1 to deal with naturally occurring replication impediments e.g. stalled replication forks arising at abortive topoisomerase 1/2 lesions. Cytologically, cells from RECON syndrome patients exhibit an increase in spontaneous and DNA damage-induced chromosome breakage.
RECQL1