Skip to Main content Skip to Navigation
Journal articles

New Case of Thyroid Hormone Resistance α Caused by a Mutation of THRA/TRα1

Abstract : We found a sporadic case of mental retardation associated with short stature and constipation. We investigated the possible genetic origin of the syndrome. Clinical and biochemical investigations were conducted. Exome sequencing was used to search for pathogenic variations. A de novo mutation (c.1183G>T, p.E395X) was found in one allele of the THRA gene. The mutation creates a stop codon, which eliminates the C-terminal helix of the TR alpha 1 receptor for thyroid hormone. The patient has typical symptoms for the resistance to thyroid hormone alpha (RTH alpha) genetic disease, but has a normal head circumference. There are now 21 known mutations in THRA. All mutations that alter the C-terminal helix of TR alpha 1 lead to severe forms of RTH alpha. Copyright (C) 2019 Endocrine Society.
Document type :
Journal articles
Complete list of metadata
Contributor : Christopher Lallemant <>
Submitted on : Friday, October 30, 2020 - 11:16:35 AM
Last modification on : Tuesday, July 6, 2021 - 3:43:36 AM

Links full text




Hui Sun, Haiying Wu, Rongrong Xie, Fengyun Wang, Ting Chen, et al.. New Case of Thyroid Hormone Resistance α Caused by a Mutation of THRA/TRα1. Journal of the Endocrine Society, Oxford University Press, 2019, 3 (3), pp.665-669. ⟨10.1210/js.2019-00011⟩. ⟨hal-02983728⟩



Record views