DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.

ABSTRACT:

Purpose

Determining the role of DYNC2H1 variants in nonsyndromic inherited retinal disease (IRD).

Methods

Genome and exome sequencing were performed for five unrelated cases of IRD with no identified variant. In vitro assays were developed to validate the variants identified (fibroblast assay, induced pluripotent stem cell [iPSC] derived retinal organoids, and a dynein motility assay).

Results

Four novel DYNC2H1 variants (V1, g.103327020_103327021dup; V2, g.103055779A>T; V3, g.103112272C>G; V4, g.103070104A>C) and one previously reported variant (V5, g.103339363T>G) were identified. In proband 1 (V1/V2), V1 was predicted to introduce a premature termination codon (PTC), whereas V2 disrupted the exon 41 splice donor site causing incomplete skipping of exon 41. V1 and V

SUBMITTER: Vig A 

PROVIDER: S-EPMC7708302 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature