Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus.

ABSTRACT:

Purpose

We aim to report noncoding pathogenic variants in patients with FRMD7-related infantile nystagmus (FIN).

Methods

Genome sequencing (n = 2 families) and reanalysis of targeted panel next generation sequencing (n = 2 families) was performed in genetically unsolved cases of suspected FIN. Previous sequence analysis showed no pathogenic coding variants in genes associated with infantile nystagmus. SpliceAI, SpliceRover, and Alamut consensus programs were used to annotate noncoding variants. Minigene splicing assay was performed to confirm aberrant splicing. In silico analysis of exonic splicing enhancer and silencer was also performed.

Results

FRMD7 intronic variants were identified based on genome sequencing and targeted next-generation sequencing analysis. These

SUBMITTER: Lee J 

PROVIDER: S-EPMC9251792 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature