Hearing loss (HL) is one of the most prevalent disabilities worldwide and is highly heritable. Nevertheless, genetics of adult-onset HL is poorly understood. In this study, a DNA-variant was identified in the RIPOR2 gene as a frequent cause of HL. The HL associated with the RIPOR2-variant is highly variable and the age of onset, on average 30 years, can be higher than 50 years. The DNA-variant has functional consequences for the RIPOR2 protein. Many individuals are at risk to develop HL due to this DNA-variant, which is mainly seen in persons from Northwest Europe and specifically in the Netherlands. (By Suzanne de Bruijn, https://jmg.bmj.com/content/early/2020/05/13/jmedgenet-2020-106863 )
A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss
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