Article
A New Pathogenic Variant in the TRIOBP Associated with Profound Deafness Is Remediable with Cochlear Implantation.
Audiology & neuro-otology - 1 Jan 2021
Tekin Ahmet M, de Ceulaer Geert, Govaerts Paul, Bayazit Yıldırım, Wuyts Wim, Van de Heyning Paul, Topsakal Vedat
Abstract excerpt
BACKGROUND AND OBJECTIVES: A rare type of nonsyndromic autosomal recessive hereditary hearing loss is caused by pathogenic mutations in the TRIOBP gene mostly involving exons 6 and 7. These mutations cause hearing loss originating from dysfunction of sensory inner ear hair cells. Of all the affected siblings, 2 brothers and 1 sister, part of an Afghan family, were referred to our clinic for diagnostic workup and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.