Biallelic Loss-of-Function Variants in UBAP1L and Nonsyndromic Retinal Dystrophies.

ABSTRACT:

Importance

Inherited retinal dystrophies (IRDs) present a challenge in clinical diagnostics due to their pronounced genetic heterogeneity. Despite advances in next-generation sequencing (NGS) technologies, a substantial portion of the genetic basis underlying IRDs remains elusive. Addressing this gap seems important for gaining insights into the genetic landscape of IRDs, which may help improve diagnosis and prognosis and develop targeted therapies in the future.

Objective

To provide a clinical and molecular characterization of 6 patients with IRDs with biallelic disease-causing variants in a novel candidate IRD disease gene.

Design, setting, and participants

This multicenter case series study included 6 patients with IRDs from 4 tertiary hospitals (in the US: Nationa

SUBMITTER: Ullah E 

PROVIDER: S-EPMC11428035 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature