Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy.

ABSTRACT:

Purpose

Inherited retinal diseases are a group of clinically and genetically heterogeneous disorders with approximately 270 genes involved. IMPG2 is associated with adult-onset vitelliform macular dystrophy. Here, we investigated two unrelated patients with vitelliform macular dystrophy to identify the underlying genetic cause.

Methods

Whole-exome sequencing identified a putative causal complex allele consisting of c.3023-15T>A and c.3023G>A (p.(Gly1008Asp)) in IMPG2 in both individuals. To assess its effect, in vitro splice assays in HEK293T and further characterization in patient-derived photoreceptor precursor cells (PPCs) were conducted.

Results

The results of the midigene splice assays in HEK293T showed that the complex allele causes a variety of splicing defects

SUBMITTER: Vazquez-Dominguez I 

PROVIDER: S-EPMC9150824 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature