Article

<i>THRB</i> splice site variants lead to exon 4 skipping and TRβ1 gain-of-function syndrome

2026-04-22

Abstract excerpt

<h4>Background</h4> Heterozygous c.283+1G>A and c.283G>A variants in the THRB gene, encoding for thyroid hormone receptor (TR)β1 and β2, lead to autosomal dominant macular dystrophy (ADMD). We report the detailed clinical characterization of two first-degree relatives with ADMD, heterozygous for THRB c.283+1G>A, and an unrelated ADMD patient with a novel variant, c.283G>C. The genomic and molecular consequences...

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Literature Corpus work: 092ff177-a64f-546c-a8a2-9d9851af8957
DOI: 10.64898/2026.04.15.26349265

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