2013.06.21 Press Release
New responsible gene for Noonan syndrome identified
A research group of Associate Professor Yoko Aoki, Assistant Professor Tetsuya Niihori, and Professor Yoichi Matsubara of the Department of Medical Genetics, Tohoku University Graduate School of Medicine; Professor Keiko Nakayama of the Division of Cell Proliferation, United Centers for Advanced Research and Translational Medicine; and Professor Toshihiko Ogura and Researcher Toshihiro Banjo of the Department of Developmental Neurobiology, Institute of Development, Aging and Cancer at Tohoku University has identified mutations in RIT1 as the responsible gene for Noonan syndrome, a congenital disorder characterized by skeletal abnormalities and hypertrophic cardiomyopathy.
This study has shown, for the first time, that mutations in RIT1 within humans have the similar function as the mutations in oncogene HRAS, KRAS, and NRAS. With this discovery, the elucidation of the pathogenesis of Noonan syndrome and the development of new treatments are expected.
The research results were published in the electronic edition of the scientific journal "The American Journal on Human Genetics" dated June 20, 2013.
More information (Japanese)
(About the research)
Associate Professor Yoko Aoki
Department of Medical Genetics
Tohoku University Graduate School of Medicine
Senior Assistant Professor Hitoshi Inada
Public Relations Office of Tohoku University Graduate School of Medicine
E-mail: hinada*med.tohoku.ac.jp (Replace * with @)