A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss.

ABSTRACT:

Background

Hearing loss is one of the most prevalent disabilities worldwide, and has a significant impact on quality of life. The adult-onset type of the condition is highly heritable but the genetic causes are largely unknown, which is in contrast to childhood-onset hearing loss.

Methods

Family and cohort studies included exome sequencing and characterisation of the hearing phenotype. Ex vivo protein expression addressed the functional effect of a DNA variant.

Results

An in-frame deletion of 12 nucleotides in RIPOR2 was identified as a highly penetrant cause of adult-onset progressive hearing loss that segregated as an autosomal dominant trait in 12 families from the Netherlands. Hearing loss associated with the deletion in 63 subjects displayed variable audio

SUBMITTER: de Bruijn SE 

PROVIDER: S-EPMC8120656 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature