Rothmund-thomson syndrome

Abstract

The pathogenic gene WRN of Werner syndrome, which is one of the typical "progeria syndrome", belongs to the RecQ helicase family. This is the family of Neuropathology else Rosumundo-Thomson syndrome (RTS) RECQL4 exists. RTS is characterized by poikiloderma, bone lesions, and osteosarcoma. Phenotypes are different even for abnormalities in the same helicase family. Clarifying the pathophysiology of rare hereditary diseases is considered important in considering the mechanism of aging.