Congenital Hypothyroidism

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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ey0021.3-9 | Congenital Hypothyroidism | ESPEYB21

3.9. STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179

Grasberger Helmut , Dumitrescu Alexandra M , Liao Xiao-Hui , Swanson Elliott G , Weiss Roy E , Srichomkwun Panudda , Pappa Theodora , Chen Junfeng , Yoshimura Takashi , Hoffmann Phillip , Franca Monica Malheiros , Tagett Rebecca , Onigata Kazumichi , Costagliola Sabine , Ranchalis Jane , Vollger Mitchell R , Stergachis Andrew B , Chong Jessica X , Bamshad Michael J , Smits Guillaume , Vassart Gilbert , Refetoff Samuel

Brief Summary: This study investigated congenital hypothyroidism (CH) due to dominantly inherited resistance to TSH (RTSH) in 12 unrelated families. It reveals that mutations in a non-coding (TTTG) short tandem repeat (STR) on chromosome 15q cause this condition by activating a thyroid-specific enhancer cluster. Functional studies showed that activation of this enhancer cluster leads to upregulation of the bicistronic MIR7-2/MIR1179 locus, resulting in overexpression of its mi...

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ESPE Yearbook of Paediatric Endocrinology

Yearbook of Paediatric Endocrinology 2024

3. Thyroid

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

3.9. STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179

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