ESPEYB21 3. Thyroid Congenital Hypothyroidism (2 abstracts)
3.8. Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities
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
Nat Genet. 2024 May;56(5):869-876. doi: 10.1038/s41588-024-01735-5. PMID: 38714868
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 those with any family history of CH (41.5%), and that it was highly prevalent in a subgroup of CH patients with parent-to-offspring transmission of CH (75.0%).
The clinical phenotype of variant-carrying patients was relatively uniform: moderately elevated serum TSH levels in combination with FT4 usually within the reference interval, but elevated thyroglobulin levels in almost all, and slightly small thyroid glands in most patients. Functional assays suggested that the TTTG microsatellite is a thyroid-specific repressor and that sequence changes affecting the microsatellite cause loss of repressor activity. The precise mechanism causing the non-goitrous CH and the MNG, remains to be elucidated.
Volume 21
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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