Identification of new families and variants in autosomal dominant macular dystrophy associated with THRB.

ABSTRACT: THRB encodes thyroid hormone receptor β which produces two human isoforms (TRβ1 and TRβ2) by alternative splicing. The first THRB variant associated with autosomal dominant macular dystrophy (ADMD), NM_001354712.2:c.283 + 1G > A, was recently described. This study aims to refine the ophthalmologic phenotype, report a novel THRB variant, and investigate the impact of these splicing variants at the protein level. THRB variants were identified by re-analysis of next-generation sequencing data from the FJD database. Family segregation was performed using Sanger sequencing. Clinical data were collected from self-reported ophthalmic history questionnaires and ophthalmic exams. Functional splicing test was performed by in vitro minigene approach. We identified 12 patients with ADMD from 3 familie

SUBMITTER: Fernandez-Caballero L 

PROVIDER: S-EPMC12037757 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature