Whole exome sequencing of paediatric patients with Cogan's syndrome to identify monogenic mimics.

Abstract excerpt

OBJECTIVES: Cogan's syndrome (CS) is a rare variable vessel vasculitis, describing sensorineural hearing loss (SNHL), inflammatory ocular disease and vestibular dysfunction. We hypothesized that within paediatric-onset (p)CS, a proportion would have monogenic disease, either autoinflammatory and/or associated with SNHL. METHODS: Whole exome sequencing (WES) was performed and analysed using an in-house pipeline...

Topics

• Humans
• Cogan Syndrome
• Female
• Child
• Exome Sequencing
• Male