A Novel <i>EYA1</i> Mutation Causing Alternative RNA Splicing in a Chinese Family With Branchio-Oto Syndrome: Implications for Molecular Diagnosis and Clinical Application

Abstract

Objectives: Branchio-oto syndrome (BOS) mainly manifests as hearing loss, preauricular pits and branchial defects. EYA1 is the most common pathogenic gene, and splicing mutations account for a substantial proportion of cases. However, few studies have addressed the structural changes in the protein caused by splicing mutations and the potential pathogenic factors, and several studies have shown that middle-ear surgery is somewhat limited in improving hearing in these patients. BOS is also less frequently reported in the Chinese population. This study sought to explore the genetic aetiology in the proband