<i>THRB</i> splice site variants lead to exon 4 skipping and TRβ1 gain-of-function syndrome
Background: c.283+1G>A, and an unrelated ADMD patient with a novel variant, c.283G>C. The genomic and molecular consequences of both variants were studied. Methods: assays investigated TR function and DNA binding. Results: expression in leukocytes was increased by 3-fold compared to unrelated controls and different from RTHβ patients. Conclusion: . This explains the dominant ADMD phenotype devoid of RTHβ and suggests a TRβ1 gain-of-function syndrome.
Authors
- Lars C. Moeller (ORCID: https://orcid.org/0000-0002-9330-9036)
- Roy E. Weiss (ORCID: https://orcid.org/0000-0003-3671-0621)
- A Dumitrescu (ORCID: https://orcid.org/0009-0008-8421-3471)
- Anja Eckstein (ORCID: https://orcid.org/0000-0002-8971-1444)
- Samuel Refetoff (ORCID: https://orcid.org/0000-0003-0164-8231)
- Georg Sebastian Hönes (ORCID: https://orcid.org/0000-0002-5080-7166)
- Elisa A. Mahler (ORCID: https://orcid.org/0009-0004-1845-7700)
- J.C Mendoza Castillo
- John Chiang (ORCID: https://orcid.org/0000-0003-4693-2965)
- Dagmar Führer
- Xiao-Hui Liao
- Philipp Herrmann
- Andrea Louise Vincent
Institutions
- Hôpital Necker-Enfants Malades (FR)
- University of Miami (US)
- Université Paris Cité (FR)
- University Hospital Bonn (DE)
- University of Chicago (US)
- Greenlane Clinical Centre (NZ)
- Assistance Publique – Hôpitaux de Paris (FR)
- Essen University Hospital (DE)
- Oregon Physics (United States) (US)
Publication Details
- Journal
- medRxiv
- Published
- 2026-04-22
- DOI
- https://doi.org/10.64898/2026.04.15.26349265
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00