2024.6.25
NewsGenomic Abnormality Causing Familial Congenital Hypothyroidism Identified – Genetic Disease Research Enters a New Phase
A research group including Professor Gen Tamiya and Associate Professor Jun Takayama (Genome Informatics Group and Tohoku Medical Megabank Organization (ToMMo)) at the Center has conducted a study of Japanese patients with congenital hypothyroidism and identified a non-coding genomic abnormality on chromosome 15 that is associated with disease development. Until now, the cause of more than 90% of cases of congenital hypothyroidism in parents and children had been unknown, but 75% of cases were found to be due to this abnormality. The authors also found that this genomic abnormality causes adenomatous goiter in adults.
These results were published online in Nature Genetics on May 7, 2024 (EST)
Publication Details
Title: Functional variants in a TTTG microsatellite on 15q26.1 cause familial non-autoimmune thyroid abnormalities
Authors: Satoshi Narumi, Keisuke Nagasaki, Mitsuo Kiriya, Erika Uehara, Kazuhisa Akiba, Kanako Tanase-Nakao, Kazuhiro Shimura, Kiyomi Abe, Chiho Sugisawa, Tomohiro Ishii, Kenichi Miyako, Yukihiro Hasegawa, Yoshihiro Maruo, Koji Muroya, Natsuko Watanabe, Eijun Nishihara, Yuka Ito, Takahiko Kogai, Kaori Kameyama, Kazuhiko Nakabayashi, Kenichiro Hata, Maki Fukami, Hirohito Shima, Atsuo Kikuchi, Jun Takayama, Gen Tamiya & Tomonobu Hasegawa
Journal: Nature Genetics
Published date: May 7, 2024
DOI: 10.1038/s41588-024-01735-5