Autosomal dominant macular dystrophy associated with THRB: identification of new families and variants

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.

Type: Exome Sequencing
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD50000001255	Inherited retinal dystrophies (IRD) are a group of rare diseases that cause a large disability rate. THRB (MIM*190160), located on 3p24.2, encodes the thyroid hormone receptor beta (TRβ). THRB mutations may be associated with human cone disorders, as this gene regulates the expression of red cone opsins. The aim of this work is to refine the ophthalmologic phenotype and describe a novel variant in THRB associated to IRD, thus confirming the role of this gene in tiopathogenesis of IRD.	Illumina HiSeq 2000	5

Publications	Citations
Identification of new families and variants in autosomal dominant macular dystrophy associated with THRB. Fernández-Caballero L, Blanco-Kelly F, Swafiri ST, Martín-Mérida MI, Quinodoz M, Ullah M, Carreño E, Martin-Gutierrez MP, García-Sandoval B, Minguez P, Rivolta C, Corton M, Ayuso C. Sci Rep 15: 2025 14904	1

Autosomal dominant macular dystrophy associated with THRB: identification of new families and variants ￼

Autosomal dominant macular dystrophy associated with THRB: identification of new families and variants