Mutations in TBL1X Are Associated With Central Hypothyroidism.

ABSTRACT:

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 identification of TBL1X mutations in patients with unexplained isolated CeH, Sanger sequencing of relatives of affected individuals, and clinical and biochemical characterization; in vitro investigation of functional consequences of mutations; and mRNA expression in, and immunostaining of, human hypothalami and pituitary glands.

Design

This was an observational study.<

SUBMITTER: Heinen CA 

PROVIDER: S-EPMC5155687 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature