A Novel Deep Intronic MYO15A Variant

Description

In this study, a novel deep intronic MYO15A variant, c.3756+63G>A, was identified in a Chinese patient with congenital hearing loss. Minigene assays further demonstrated that this variant disrupts normal splicing by inducing partial intron retention, resulting in a frameshift and premature termination. These findings not only expand the mutational spectrum of MYO15A but also underscore the critical value of functional splicing assays for interpreting non‑canonical variants in hereditary hearing loss.

Institutions

• Nanjing Medical University

  Jiangsu, Nanjing

Categories

Licence