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ey0021.3-8 | Congenital Hypothyroidism | ESPEYB21

3.8. Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities

Narumi Satoshi , Nagasaki Keisuke , Kiriya Mitsuo , Uehara Erika , Akiba Kazuhisa , Tanase-Nakao Kanako , Shimura Kazuhiro , Abe Kiyomi , Sugisawa Chiho , Ishii Tomohiro , Miyako Kenichi , Hasegawa Yukihiro , Maruo Yoshihiro , Muroya Koji , Watanabe Natsuko , Nishihara Eijun , Ito Yuka , Kogai Takahiko , Kameyama Kaori , Nakabayashi Kazuhiko , Hata Kenichiro , Fukami Maki , Shima Hirohito , Kikuchi Atsuo , Takayama Jun , Tamiya Gen , Hasegawa Tomonobu

Brief Summary: The authors performed linkage analysis and whole-genome sequencing (WGS) of a Japanese family with both non-goitrous congenital hypothyroidism (CH) and multinodular goiter (MNG), and WGS in 10 other families. They discovered an association between these thyroid abnormalities and variants in a noncoding TTTG microsatellite at 15q26.1. Additional screening of 989 Japanese patients with CH showed that 13.9% carried a TTTG variant, that it was more prevalent in thos...

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ESPE Yearbook of Paediatric Endocrinology

3.8. Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities

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