{"id":1129,"date":"2018-04-27T20:59:13","date_gmt":"2018-04-27T20:59:13","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1129"},"modified":"2026-02-24T15:54:01","modified_gmt":"2026-02-24T15:54:01","slug":"old-gene-new-phenotype-splicing-altering-variants-in-ceacam16-cause-recessive-non-syndromic-hearing-impairment","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2018\/04\/27\/old-gene-new-phenotype-splicing-altering-variants-in-ceacam16-cause-recessive-non-syndromic-hearing-impairment\/","title":{"rendered":"Old gene, new phenotype: Splicing altering variants in CEACAM16 cause recessive non-syndromic hearing impairment (Contributed by Kevin T Booth)"},"content":{"rendered":"<p>CEACAM16 is an adhesion protein that plays a critical role in ensuring proper auditory function.\u00a0 Defects in this protein have been linked to dominant hearing loss through a dominant-negative mechanism. Here we report that novel splice-altering variants in <em>CEACAM16<\/em> gene are associated with autosomal recessive nonsyndromic hearing loss. Our findings broaden the pathogenic mechanisms of CEACAM16 to involve loss-of-function variants and expand its phenotypic spectrum to include recessive inheritance, thereby increasing our understanding of its contribution to human deafness. This knowledge directly impacts clinical interpretation and diagnosis for patients with hearing loss. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2018\/04\/26\/jmedgenet-2018-105349\">http:\/\/jmg.bmj.com\/content\/early\/2018\/04\/26\/jmedgenet-2018-105349<\/a>)<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>CEACAM16 is an adhesion protein that plays a critical role in ensuring proper auditory function.\u00a0 Defects in this protein have been linked to dominant hearing loss through a dominant-negative mechanism. Here we report that novel splice-altering variants in CEACAM16 gene are associated with autosomal recessive nonsyndromic hearing loss. Our findings broaden the pathogenic mechanisms of [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2018\/04\/27\/old-gene-new-phenotype-splicing-altering-variants-in-ceacam16-cause-recessive-non-syndromic-hearing-impairment\/\">Read More&#8230;<\/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-1129","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.3 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Old gene, new phenotype: Splicing altering variants in CEACAM16 cause recessive non-syndromic hearing impairment (Contributed by Kevin T Booth) - 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\/2018\/04\/27\/old-gene-new-phenotype-splicing-altering-variants-in-ceacam16-cause-recessive-non-syndromic-hearing-impairment\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Old gene, new phenotype: Splicing altering variants in CEACAM16 cause recessive non-syndromic hearing impairment (Contributed by Kevin T Booth) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"CEACAM16 is an adhesion protein that plays a critical role in ensuring proper auditory function.\u00a0 Defects in this protein have been linked to dominant hearing loss through a dominant-negative mechanism. Here we report that novel splice-altering variants in CEACAM16 gene are associated with autosomal recessive nonsyndromic hearing loss. Our findings broaden the pathogenic mechanisms of [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2018\/04\/27\/old-gene-new-phenotype-splicing-altering-variants-in-ceacam16-cause-recessive-non-syndromic-hearing-impairment\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2018-04-27T20:59:13+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T15:54:01+00:00\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/04\\\/27\\\/old-gene-new-phenotype-splicing-altering-variants-in-ceacam16-cause-recessive-non-syndromic-hearing-impairment\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/04\\\/27\\\/old-gene-new-phenotype-splicing-altering-variants-in-ceacam16-cause-recessive-non-syndromic-hearing-impairment\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Old gene, new phenotype: Splicing altering variants in CEACAM16 cause recessive non-syndromic hearing impairment (Contributed by Kevin T Booth)\",\"datePublished\":\"2018-04-27T20:59:13+00:00\",\"dateModified\":\"2026-02-24T15:54:01+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/04\\\/27\\\/old-gene-new-phenotype-splicing-altering-variants-in-ceacam16-cause-recessive-non-syndromic-hearing-impairment\\\/\"},\"wordCount\":119,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/04\\\/27\\\/old-gene-new-phenotype-splicing-altering-variants-in-ceacam16-cause-recessive-non-syndromic-hearing-impairment\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/04\\\/27\\\/old-gene-new-phenotype-splicing-altering-variants-in-ceacam16-cause-recessive-non-syndromic-hearing-impairment\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/04\\\/27\\\/old-gene-new-phenotype-splicing-altering-variants-in-ceacam16-cause-recessive-non-syndromic-hearing-impairment\\\/\",\"name\":\"Old gene, new phenotype: Splicing altering variants in CEACAM16 cause recessive non-syndromic hearing impairment (Contributed by Kevin T Booth) - 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