A New Pathogenic Variant in the TRIOBP Associated with Profound Deafness Is Remediable with Cochlear Implantation

Conclusions: Implant outcomes are better with normal inner ear anatomy in general. The earlier congenital patients are implanted, the better their outcomes. Here, we demonstrate both statements are true in a homozygous c.1342C #x3e; T p. (Arg448*) pathogenic variant in theTRIOBP gene in all 3 affected siblings.Audiol Neurotol
Source: Audiology and Neurotology - Category: Audiology Source Type: research