ABCA4 Deep Intronic Variants Contributed to Nearly Half of Unsolved Stargardt Cases With a Milder Phenotype.

ABSTRACT:

Purpose

The purpose of this study was to investigate the contribution and natural progression of ABCA4 deep intronic variants (DIVs) among a Chinese Stargardt disease (STGD) cohort.

Methods

For unsolved STGD probands, DIVs in ABCA4 were detected by next-generation sequencing, and splicing effects were evaluated by in silico tools and validated through minigene experiments. Comprehensive ocular examinations, especially fundus changes, were carried out and analyzed. These and long-term follow-up data were compared with data of patients carrying biallelic coding variants of ABCA4.

Results

Seven DIVs in ABCA4 were identified in 18 of 40 (45.0%) unsolved STGD probands, involving 2 novel and 5 known variants. Four DIVs were confirmed to effect splicing through minigene assa

SUBMITTER: Wang Y 

PROVIDER: S-EPMC11781324 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature