Gene causative of Rothmund-Thomson syndrome and gene product
AssigneeAgene Research Institute Co., Ltd.
InventorsSaori Kitao, Akira Shimamoto, Yasuhiro Furuichi
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Abstract
The RecQ4 helicase gene, belonging to the RecQ helicase gene family, is revealed herein to be the causative gene of Rothmund-Thomson syndrome. The present inventors found out that it is possible to diagnose Rothmund-Thomson syndrome by detecting mutation of this gene. Further, they uncovered that it is possible to treat patients of Rothmund-Thomson syndrome by utilizing normal RecQ4 helicase gene or proteins thereof.
Claims7
A method for the diagnosis of Rothmund-Thomson syndrome, characterized by detecting mutations in the DNA encoding RecQ4 helicase or the expression regulatory region thereof.
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