Rescue of Aberrant Splicing Caused by a Novel Complex Deep-intronic <i>ABCA4</i> Allele.

ABSTRACT: Background/Objectives: Stargardt disease (STGD1) is an autosomal recessive disorder caused by pathogenic variants in ABCA4 that affects the retina and is characterised by progressive central vision loss. The onset of disease manifestations varies from childhood to early adulthood. Methods: Whole exome (WES), whole gene, and whole genome sequencing (WGS) were performed for a patient with STGD1. Results: WES revealed a heterozygous pathogenic missense variant in ABCA4, but no second pathogenic variant was found. ABCA4 whole-gene sequencing, subsequent WGS, and segregation analysis identified a complex deep-intronic allele (NM_000350.2(ABCA4):c.[1555-5882C>A;1555-5784C>G]) in trans to the missense variant. Minigene assays combined with nanopore

SUBMITTER: Maggi J 

PROVIDER: S-EPMC11675205 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature