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Article

Mutations in TBL1X Are Associated With Central Hypothyroidism.

The Journal of clinical endocrinology and metabolism - 1 Dec 2016

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

Abstract excerpt

CONTEXT: 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. OBJECTIVE: The objectives of the study were the...

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Identifiers

PMID: 27603907
DOI: 10.1210/jc.2016-2531
PMCID: PMC5155687

Genes

IGSF1
TRHR
TSHB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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