Mutations in TBL1X Are Associated With Central Hypothyroidism | Zendy

Charlotte A. Heinen | Zendy; Monique Losekoot | Zendy; Yu Sun | Zendy; Peter J. Watson | Zendy; Louise Fairall | Zendy; Sjoerd D. Joustra | Zendy; Nitash ZwavelingSoonawala | Zendy; Wilma Oostdijk | Zendy; Erica L.T. van den Akker | Zendy; Mariëlle Alders | Zendy; Gijs W.E. Santen | Zendy; Rick R. van Rijn | Zendy; Wouter A. Dreschler | Zendy; Olga V. Surovtseva | Zendy; Nienke R. Biermasz | Zendy; Raoul C. M. Hennekam | Zendy; Jan M. Wit | Zendy; John W. R. Schwabe | Zendy; Anita Boelen | Zendy; Eric Fliers | Zendy; A.S. Paul van Trotsenburg | Zendy

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Mutations in TBL1X Are Associated With Central Hypothyroidism

Author(s) -

Charlotte A. Heinen,

Monique Losekoot,

Yu Sun,

Peter J. Watson,

Louise Fairall,

Sjoerd D. Joustra,

Nitash ZwavelingSoonawala,

Wilma Oostdijk,

Erica L.T. van den Akker,

Mariëlle Alders,

Gijs W.E. Santen,

Rick R. van Rijn,

Wouter A. Dreschler,

Olga V. Surovtseva,

Nienke R. Biermasz,

Raoul C. M. Hennekam,

Jan M. Wit,

John W. R. Schwabe,

Anita Boelen,

Eric Fliers,

A.S. Paul van Trotsenburg

Publication year - 2016

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2016-2531

Subject(s) - missense mutation , sanger sequencing , mutation , biology , medicine , genetics , endocrinology , gene

Isolated congenital central hypothyroidism (CeH) can result from mutations in TRHR, TSHB, and IGSF1, but its etiology often remains unexplained. We identified a missense mutation in the transducin β-like protein 1, X-linked (TBL1X) gene in three relatives diagnosed with isolated CeH. TBL1X is part of the thyroid hormone receptor-corepressor complex.

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