{"id":753,"date":"2015-05-04T18:09:58","date_gmt":"2015-05-04T18:09:58","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=753"},"modified":"2026-02-25T01:07:23","modified_gmt":"2026-02-25T01:07:23","slug":"met-variant-and-human-hearing-loss","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2015\/05\/04\/met-variant-and-human-hearing-loss\/","title":{"rendered":"MET variant and human hearing loss (Contributed by Dr. Sadaf Naz)"},"content":{"rendered":"<p>Hearing loss is a common phenotype. We mapped <em>DFNB97<\/em>, a new recessively inherited deafness locus, to chromosome 7q31.2. The <em>DFNB97<\/em> phenotype is segregating in a consanguineous family with 9 affected individuals. Whole-exome sequencing (WES) identified a missense mutation in <em>MET<\/em> (Mesenchymal Epithelial Transition factor) which is the receptor for HGF (hepatocyte growth factor). The p.F841V variant co-segregated with deafness in this family, and affects a highly conserved amino acid in MET in a domain that forms an HGF binding site. It is predicted to be disease causing by different software programs. Although the requirement of HGF for normal hearing has been reported, this is the first study to directly implicate its receptor MET in human hearing. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2015\/05\/03\/jmedgenet-2015-103023\">http:\/\/jmg.bmj.com\/content\/early\/2015\/05\/03\/jmedgenet-2015-103023<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/files\/2015\/05\/Mujtaba-et-al.-JMG-blog.gif\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-754\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2015\/05\/Mujtaba-et-al.-JMG-blog-258x300.gif\" alt=\"Mujtaba et al. JMG blog\" width=\"258\" height=\"300\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2015\/05\/Mujtaba-et-al.-JMG-blog-258x300.gif 258w, https:\/\/blogs.bmj.com\/jmg\/files\/2015\/05\/Mujtaba-et-al.-JMG-blog-880x1024.gif 880w\" sizes=\"auto, (max-width: 258px) 100vw, 258px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Hearing loss is a common phenotype. We mapped DFNB97, a new recessively inherited deafness locus, to chromosome 7q31.2. The DFNB97 phenotype is segregating in a consanguineous family with 9 affected individuals. Whole-exome sequencing (WES) identified a missense mutation in MET (Mesenchymal Epithelial Transition factor) which is the receptor for HGF (hepatocyte growth factor). The p.F841V [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2015\/05\/04\/met-variant-and-human-hearing-loss\/\">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-753","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>MET variant and human hearing loss (Contributed by Dr. Sadaf Naz) - 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\/2015\/05\/04\/met-variant-and-human-hearing-loss\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"MET variant and human hearing loss (Contributed by Dr. Sadaf Naz) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Hearing loss is a common phenotype. We mapped DFNB97, a new recessively inherited deafness locus, to chromosome 7q31.2. The DFNB97 phenotype is segregating in a consanguineous family with 9 affected individuals. Whole-exome sequencing (WES) identified a missense mutation in MET (Mesenchymal Epithelial Transition factor) which is the receptor for HGF (hepatocyte growth factor). The p.F841V [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2015\/05\/04\/met-variant-and-human-hearing-loss\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2015-05-04T18:09:58+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T01:07:23+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2015\/05\/Mujtaba-et-al.-JMG-blog.gif\" \/>\n\t<meta property=\"og:image:width\" content=\"3000\" \/>\n\t<meta property=\"og:image:height\" content=\"3492\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/gif\" \/>\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\\\/2015\\\/05\\\/04\\\/met-variant-and-human-hearing-loss\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/05\\\/04\\\/met-variant-and-human-hearing-loss\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"MET variant and human hearing loss (Contributed by Dr. Sadaf Naz)\",\"datePublished\":\"2015-05-04T18:09:58+00:00\",\"dateModified\":\"2026-02-25T01:07:23+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/05\\\/04\\\/met-variant-and-human-hearing-loss\\\/\"},\"wordCount\":136,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/05\\\/04\\\/met-variant-and-human-hearing-loss\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2015\\\/05\\\/Mujtaba-et-al.-JMG-blog-258x300.gif\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/05\\\/04\\\/met-variant-and-human-hearing-loss\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/05\\\/04\\\/met-variant-and-human-hearing-loss\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/05\\\/04\\\/met-variant-and-human-hearing-loss\\\/\",\"name\":\"MET variant and human hearing loss (Contributed by Dr. Sadaf Naz) - 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