Gene causative of Rothmund-Thomson syndrome and its gene product

摘要

It has been clarified that RecQ4 helicase gene belonging to the RecQ helicase gene family is causative of Rothmund-Thomson syndrome. By detecting the occurrence of a mutation in this gene, Rothmund-Thomson syndrome can be examined. Further, patients with Rothmund-Thomson syndrome can be treated by using normal RecQ4 helicase gene, its protein, etc.