[5][6][7] Mutations in RECQL4 are associated with the autosomal recessive disease Rothmund–Thomson syndrome, a disorder that has features of premature aging.

This condition is associated with a high risk of developing osteosarcoma (malignant tumor of the bone).

[11] RECQL4 gets its name from being homologous (sharing sequence) with other members of the RecQ helicase family.

Repair of double-strand breaks by homologous recombination (HR) is an important cellular mechanism for avoiding this lethality.

RECQL4 has a crucial role in the first step of HR, referred to as end resection.