{"id":1497,"date":"2020-07-07T01:31:30","date_gmt":"2020-07-07T01:31:30","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1497"},"modified":"2026-02-23T23:54:14","modified_gmt":"2026-02-23T23:54:14","slug":"a-ripor2-in-frame-deletion-is-a-frequent-and-highly-penetrant-cause-of-adult-onset-hearing-loss","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2020\/07\/07\/a-ripor2-in-frame-deletion-is-a-frequent-and-highly-penetrant-cause-of-adult-onset-hearing-loss\/","title":{"rendered":"A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss (Contributed by Suzanne de Bruijn)"},"content":{"rendered":"

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<\/em> gene as a frequent cause of HL. The HL associated with the RIPOR2<\/em>-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. (https:\/\/jmg.bmj.com\/content\/early\/2020\/05\/13\/jmedgenet-2020-106863<\/a> )<\/p>\n

\"\"<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"

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 […]<\/p>\n

Read More…<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1497","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nA RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss (Contributed by Suzanne de Bruijn) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/07\/07\/a-ripor2-in-frame-deletion-is-a-frequent-and-highly-penetrant-cause-of-adult-onset-hearing-loss\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss (Contributed by Suzanne de Bruijn) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"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. 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