Novel Splice-Altering Variants in the <i>CHM</i> and <i>CACNA1F</i> Genes Causative of X-Linked Choroideremia and Cone Dystrophy.

ABSTRACT:

Background

An estimated 10-15% of all genetic diseases are attributable to variants in noncanonical splice sites, auxiliary splice sites and deep-intronic variants. Most of these unstudied variants are classified as variants of uncertain significance (VUS), which are not clinically actionable. This study investigated two novel splice-altering variants, CHM NM_000390.4:c.941-11T>G and CACNA1F NM_005183.4:c.2576+4_2576+5del implicated in choroideremia and cone dystrophy (COD), respectively, resulting in significant visual loss.

Methods

Next-generation sequencing was employed to identify the candidate variants in CHM and CACNA1F, which were confirmed using Sanger sequencing. Cascade analysis was undertaken when additional family members were availabl

SUBMITTER: Ridgeway AR 

PROVIDER: S-EPMC11764614 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature