{"id":569,"date":"2022-06-07T13:59:00","date_gmt":"2022-06-07T13:59:00","guid":{"rendered":"https:\/\/ucthp.hospitalelcalafate.gob.ar\/?p=569"},"modified":"2023-11-03T14:04:44","modified_gmt":"2023-11-03T14:04:44","slug":"predicting-pathogenicity-for-novelhearing-loss-mutations-basedon-genetic-and-protein-structureapproaches","status":"publish","type":"post","link":"https:\/\/ucthp.hospitalelcalafate.gob.ar\/?p=569","title":{"rendered":"Predicting pathogenicity for novelhearing loss mutations basedon genetic and protein structureapproaches"},"content":{"rendered":"\n<p>Paula I. Buonfglio, Carlos D. Bruque, Vanesa Lotersztein, Leonela Luce, FlorenciaGiliberto, Sebasti\u00e1n Menazzi, Liliana Francipane, Bibiana Paoli, ErnestoGoldschmidt, Ana Bel\u00e9n Elgoyhen, Viviana Dalam\u00f3n<\/p>\n\n\n\n<p>Hearing loss is a heterogeneous disorder. Identifcation of causative mutations is demanding due to genetic heterogeneity. In this study, we investigated the genetic cause of sensorineural hearing loss in patients with severe\/profound deafness. After the exclusion of GJB2-GJB6 mutations, we performed whole exome sequencing in 32 unrelated Argentinean families. Mutations were detected in 16 known deafness genes in 20 patients: ACTG1, ADGRV1 (GPR98), CDH23, COL4A3, COL4A5, DFNA5 (GSDDE), EYA4, ARS2, LOXHD1, MITF, MYO6, MYO7A, TECTA, TMPRSS3, USH2A and WSF1. Notably, 11 variants afecting 9 diferent non-GJB2 genes resulted novel: c.12829C>T, p.(Arg4277<em>) in ADGRV1; c.337del, p.(Asp109<\/em>) and c.3352del, p.(Gly1118Alafs<em>7) in CDH23; c.3500G>A, p.(Gly1167Glu) in COL4A3; c.1183C>T, p.(Pro395Ser) and c.1759C>T, p.(Pro587Ser) in COL4A5; c.580 + 2T>C in EYA4; c.1481dup, p.(Leu495Profs<\/em>31) in LARS2; c.1939T>C, p.(Phe647Leu), in MYO6; c.733C>T, p.(Gln245<em>) in MYO7A and c.242C>G, p.(Ser81<\/em>) in TMPRSS3 genes. To predict the efect of these variants, novel protein modeling and protein stability analysis were employed. These results highlight the value of whole exome sequencing to identify candidate variants, as well as bioinformatic strategies to infer their pathogenicity.<\/p>\n\n\n\n<div class=\"wp-block-buttons is-layout-flex wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button has-custom-width wp-block-button__width-100\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Predicting+pathogenicity+for+novel+hearing+loss+mutations+based+on+genetic+and+protein+structure+approaches\" target=\"_blank\" rel=\"noreferrer noopener\">Ver Publicaci\u00f3n<\/a><\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"<p>Paula I. Buonfglio, Carlos D. Bruque, Vanesa Lotersztein, Leonela Luce, FlorenciaGiliberto, Sebasti\u00e1n Menazzi, Liliana Francipane, Bibiana Paoli, ErnestoGoldschmidt, Ana Bel\u00e9n Elgoyhen, Viviana Dalam\u00f3n Hearing loss is a heterogeneous disorder. Identifcation of causative mutations is demanding due to genetic heterogeneity. In this study, we investigated the genetic cause of sensorineural hearing loss in patients with severe\/profound [&hellip;]<\/p>\n","protected":false},"author":2,"featured_media":516,"comment_status":"closed","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"_eb_attr":"","_uag_custom_page_level_css":"","advgb_blocks_editor_width":"","advgb_blocks_columns_visual_guide":"","site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":""},"categories":[11],"tags":[],"class_list":["post-569","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-publicaciones"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v23.3 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Predicting pathogenicity for novelhearing loss mutations basedon genetic and protein structureapproaches - UCT HP<\/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:\/\/ucthp.hospitalelcalafate.gob.ar\/?p=569\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Predicting pathogenicity for novelhearing loss mutations basedon genetic and protein structureapproaches - UCT HP\" \/>\n<meta property=\"og:description\" content=\"Paula I. Buonfglio, Carlos D. Bruque, Vanesa Lotersztein, Leonela Luce, FlorenciaGiliberto, Sebasti\u00e1n Menazzi, Liliana Francipane, Bibiana Paoli, ErnestoGoldschmidt, Ana Bel\u00e9n Elgoyhen, Viviana Dalam\u00f3n Hearing loss is a heterogeneous disorder. Identifcation of causative mutations is demanding due to genetic heterogeneity. In this study, we investigated the genetic cause of sensorineural hearing loss in patients with severe\/profound [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/ucthp.hospitalelcalafate.gob.ar\/?p=569\" \/>\n<meta property=\"og:site_name\" content=\"UCT HP\" \/>\n<meta property=\"article:published_time\" content=\"2022-06-07T13:59:00+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2023-11-03T14:04:44+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/ucthp.hospitalelcalafate.gob.ar\/wp-content\/uploads\/2023\/10\/nature.png\" \/>\n\t<meta property=\"og:image:width\" content=\"250\" \/>\n\t<meta property=\"og:image:height\" content=\"200\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\n<meta name=\"author\" content=\"Mirtha\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Escrito por\" \/>\n\t<meta name=\"twitter:data1\" content=\"Mirtha\" \/>\n\t<meta name=\"twitter:label2\" content=\"Tiempo de lectura\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minuto\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\/\/ucthp.hospitalelcalafate.gob.ar\/?p=569#article\",\"isPartOf\":{\"@id\":\"https:\/\/ucthp.hospitalelcalafate.gob.ar\/?p=569\"},\"author\":{\"name\":\"Mirtha\",\"@id\":\"https:\/\/ucthp.hospitalelcalafate.gob.ar\/#\/schema\/person\/cb3d81609139435146e1257936dc9b98\"},\"headline\":\"Predicting pathogenicity for novelhearing loss mutations basedon genetic and protein structureapproaches\",\"datePublished\":\"2022-06-07T13:59:00+00:00\",\"dateModified\":\"2023-11-03T14:04:44+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\/\/ucthp.hospitalelcalafate.gob.ar\/?p=569\"},\"wordCount\":249,\"publisher\":{\"@id\":\"https:\/\/ucthp.hospitalelcalafate.gob.ar\/#organization\"},\"image\":{\"@id\":\"https:\/\/ucthp.hospitalelcalafate.gob.ar\/?p=569#primaryimage\"},\"thumbnailUrl\":\"https:\/\/ucthp.hospitalelcalafate.gob.ar\/wp-content\/uploads\/2023\/10\/nature.png\",\"articleSection\":[\"publicaciones\"],\"inLanguage\":\"es\"},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/ucthp.hospitalelcalafate.gob.ar\/?p=569\",\"url\":\"https:\/\/ucthp.hospitalelcalafate.gob.ar\/?p=569\",\"name\":\"Predicting pathogenicity for novelhearing loss mutations basedon genetic and protein structureapproaches - 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Buonfglio, Carlos D. Bruque, Vanesa Lotersztein, Leonela Luce, FlorenciaGiliberto, Sebasti\u00e1n Menazzi, Liliana Francipane, Bibiana Paoli, ErnestoGoldschmidt, Ana Bel\u00e9n Elgoyhen, Viviana Dalam\u00f3n Hearing loss is a heterogeneous disorder. Identifcation of causative mutations is demanding due to genetic heterogeneity. In this study, we investigated the genetic cause of sensorineural hearing loss in patients with severe\/profound&hellip;","coauthors":[],"tax_additional":{"categories":{"linked":["<a href=\"https:\/\/ucthp.hospitalelcalafate.gob.ar\/?cat=11\" class=\"advgb-post-tax-term\">publicaciones<\/a>"],"unlinked":["<span class=\"advgb-post-tax-term\">publicaciones<\/span>"]}},"comment_count":"0","relative_dates":{"created":"Publicado 4 a\u00f1os hace","modified":"Actualizado 3 a\u00f1os hace"},"absolute_dates":{"created":"Publicado el 7 de junio de 2022","modified":"Actualizado el 3 de noviembre de 2023"},"absolute_dates_time":{"created":"Publicado el 7 de junio de 2022 1:59 pm","modified":"Actualizado el 3 de noviembre de 2023 2:04 pm"},"featured_img_caption":"","series_order":"","_links":{"self":[{"href":"https:\/\/ucthp.hospitalelcalafate.gob.ar\/index.php?rest_route=\/wp\/v2\/posts\/569","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/ucthp.hospitalelcalafate.gob.ar\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/ucthp.hospitalelcalafate.gob.ar\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/ucthp.hospitalelcalafate.gob.ar\/index.php?rest_route=\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/ucthp.hospitalelcalafate.gob.ar\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=569"}],"version-history":[{"count":2,"href":"https:\/\/ucthp.hospitalelcalafate.gob.ar\/index.php?rest_route=\/wp\/v2\/posts\/569\/revisions"}],"predecessor-version":[{"id":571,"href":"https:\/\/ucthp.hospitalelcalafate.gob.ar\/index.php?rest_route=\/wp\/v2\/posts\/569\/revisions\/571"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/ucthp.hospitalelcalafate.gob.ar\/index.php?rest_route=\/wp\/v2\/media\/516"}],"wp:attachment":[{"href":"https:\/\/ucthp.hospitalelcalafate.gob.ar\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=569"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/ucthp.hospitalelcalafate.gob.ar\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=569"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/ucthp.hospitalelcalafate.gob.ar\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=569"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}