{"id":572,"date":"2022-06-29T14:09:00","date_gmt":"2022-06-29T14:09:00","guid":{"rendered":"https:\/\/ucthp.hospitalelcalafate.gob.ar\/?p=572"},"modified":"2023-11-03T14:12:14","modified_gmt":"2023-11-03T14:12:14","slug":"genetic-analysis-algorithm-for-the-study-of-patients-withmultiple-congenital-anomalies-and-isolated-congenitalheart-disease","status":"publish","type":"post","link":"https:\/\/ucthp.hospitalelcalafate.gob.ar\/?p=572","title":{"rendered":"Genetic Analysis Algorithm for the Study of Patients withMultiple Congenital Anomalies and Isolated CongenitalHeart Disease"},"content":{"rendered":"\n<p>Marisol Delea, Lucia S. Massara, Lucia D. Espeche, Mar\u00eda Paz Bidondo, Pablo Barbero, Jaen Oliveri, Paloma Brun, M\u00f3nica Fabro, Micaela Galain, Cecilia S. Fern\u00e1ndez, Melisa Taboas, Carlos D. Bruque, Jorge E. Kolomenski, Agust\u00edn Izquierdo, Ariel Berenstein, Viviana Cosentino, Celeste Martinoli, Mariana Vilas, M\u00f3nica Rittler, Rodrigo Mendez, Lilian Furforo, Rosa Liascovich, Boris Groisman, Sandra Rozental, Liliana Dain and on behalf of the PID ACM-CC Group <\/p>\n\n\n\n<h2 class=\"wp-block-heading\">Abstract<\/h2>\n\n\n\n<p>Congenital anomalies (CA) affect 3-5% of newborns, representing the second-leading cause of infant mortality in Argentina. Multiple congenital anomalies (MCA) have a prevalence of 2.26\/1000 births in newborns, while congenital heart diseases (CHD) are the most frequent CA with a prevalence of 4.06\/1000 births. The aim of this study was to identify the genetic causes in Argentinian patients with MCA and isolated CHD. We recruited 366 patients (172 with MCA and 194 with isolated CHD) born between June 2015 and August 2019 at public hospitals. DNA from peripheral blood was obtained from all patients, while karyotyping was performed in patients with MCA. Samples from patients presenting conotruncal CHD or DiGeorge phenotype (n = 137) were studied using MLPA. Ninety-three samples were studied by array-CGH and 18 by targeted or exome next-generation sequencing (NGS). A total of 240 patients were successfully studied using at least one technique. Cytogenetic abnormalities were observed in 13 patients, while 18 had clinically relevant imbalances detected by array-CGH. After MLPA, 26 patients presented 22q11 deletions or duplications and one presented a\u00a0<em>TBX1<\/em>\u00a0gene deletion. Following NGS analysis, 12 patients presented pathogenic or likely pathogenic genetic variants, five of them, found in\u00a0<em>KAT6B<\/em>,\u00a0<em>SHH<\/em>,\u00a0<em>MYH11<\/em>,\u00a0<em>MYH7<\/em>\u00a0and\u00a0<em>EP300<\/em>\u00a0genes, are novel. Using an algorithm that combines molecular techniques with clinical and genetic assessment, we determined the genetic contribution in 27.5% of the analyzed patients.<\/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\/35885957\/\" target=\"_blank\" rel=\"noreferrer noopener\">Ver Publicaci\u00f3n<\/a><\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"<p>Marisol Delea, Lucia S. Massara, Lucia D. Espeche, Mar\u00eda Paz Bidondo, Pablo Barbero, Jaen Oliveri, Paloma Brun, M\u00f3nica Fabro, Micaela Galain, Cecilia S. Fern\u00e1ndez, Melisa Taboas, Carlos D. Bruque, Jorge E. Kolomenski, Agust\u00edn Izquierdo, Ariel Berenstein, Viviana Cosentino, Celeste Martinoli, Mariana Vilas, M\u00f3nica Rittler, Rodrigo Mendez, Lilian Furforo, Rosa Liascovich, Boris Groisman, Sandra Rozental, Liliana [&hellip;]<\/p>\n","protected":false},"author":2,"featured_media":520,"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-572","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>Genetic Analysis Algorithm for the Study of Patients withMultiple Congenital Anomalies and Isolated CongenitalHeart Disease - 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=572\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Genetic Analysis Algorithm for the Study of Patients withMultiple Congenital Anomalies and Isolated CongenitalHeart Disease - UCT HP\" \/>\n<meta property=\"og:description\" content=\"Marisol Delea, Lucia S. Massara, Lucia D. Espeche, Mar\u00eda Paz Bidondo, Pablo Barbero, Jaen Oliveri, Paloma Brun, M\u00f3nica Fabro, Micaela Galain, Cecilia S. Fern\u00e1ndez, Melisa Taboas, Carlos D. Bruque, Jorge E. Kolomenski, Agust\u00edn Izquierdo, Ariel Berenstein, Viviana Cosentino, Celeste Martinoli, Mariana Vilas, M\u00f3nica Rittler, Rodrigo Mendez, Lilian Furforo, Rosa Liascovich, Boris Groisman, Sandra Rozental, Liliana [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/ucthp.hospitalelcalafate.gob.ar\/?p=572\" \/>\n<meta property=\"og:site_name\" content=\"UCT HP\" \/>\n<meta property=\"article:published_time\" content=\"2022-06-29T14:09:00+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2023-11-03T14:12:14+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/ucthp.hospitalelcalafate.gob.ar\/wp-content\/uploads\/2023\/10\/mdpi.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=572#article\",\"isPartOf\":{\"@id\":\"https:\/\/ucthp.hospitalelcalafate.gob.ar\/?p=572\"},\"author\":{\"name\":\"Mirtha\",\"@id\":\"https:\/\/ucthp.hospitalelcalafate.gob.ar\/#\/schema\/person\/cb3d81609139435146e1257936dc9b98\"},\"headline\":\"Genetic Analysis Algorithm for the Study of Patients withMultiple Congenital Anomalies and Isolated CongenitalHeart Disease\",\"datePublished\":\"2022-06-29T14:09:00+00:00\",\"dateModified\":\"2023-11-03T14:12:14+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\/\/ucthp.hospitalelcalafate.gob.ar\/?p=572\"},\"wordCount\":300,\"publisher\":{\"@id\":\"https:\/\/ucthp.hospitalelcalafate.gob.ar\/#organization\"},\"image\":{\"@id\":\"https:\/\/ucthp.hospitalelcalafate.gob.ar\/?p=572#primaryimage\"},\"thumbnailUrl\":\"https:\/\/ucthp.hospitalelcalafate.gob.ar\/wp-content\/uploads\/2023\/10\/mdpi.png\",\"articleSection\":[\"publicaciones\"],\"inLanguage\":\"es\"},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/ucthp.hospitalelcalafate.gob.ar\/?p=572\",\"url\":\"https:\/\/ucthp.hospitalelcalafate.gob.ar\/?p=572\",\"name\":\"Genetic Analysis Algorithm for the Study of Patients withMultiple Congenital Anomalies and Isolated CongenitalHeart Disease - 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Massara, Lucia D. Espeche, Mar\u00eda Paz Bidondo, Pablo Barbero, Jaen Oliveri, Paloma Brun, M\u00f3nica Fabro, Micaela Galain, Cecilia S. Fern\u00e1ndez, Melisa Taboas, Carlos D. Bruque, Jorge E. Kolomenski, Agust\u00edn Izquierdo, Ariel Berenstein, Viviana Cosentino, Celeste Martinoli, Mariana Vilas, M\u00f3nica Rittler, Rodrigo Mendez, Lilian Furforo, Rosa Liascovich, Boris Groisman, Sandra Rozental, Liliana&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 29 de junio de 2022","modified":"Actualizado el 3 de noviembre de 2023"},"absolute_dates_time":{"created":"Publicado el 29 de junio de 2022 2:09 pm","modified":"Actualizado el 3 de noviembre de 2023 2:12 pm"},"featured_img_caption":"","series_order":"","_links":{"self":[{"href":"https:\/\/ucthp.hospitalelcalafate.gob.ar\/index.php?rest_route=\/wp\/v2\/posts\/572","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=572"}],"version-history":[{"count":3,"href":"https:\/\/ucthp.hospitalelcalafate.gob.ar\/index.php?rest_route=\/wp\/v2\/posts\/572\/revisions"}],"predecessor-version":[{"id":575,"href":"https:\/\/ucthp.hospitalelcalafate.gob.ar\/index.php?rest_route=\/wp\/v2\/posts\/572\/revisions\/575"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/ucthp.hospitalelcalafate.gob.ar\/index.php?rest_route=\/wp\/v2\/media\/520"}],"wp:attachment":[{"href":"https:\/\/ucthp.hospitalelcalafate.gob.ar\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=572"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/ucthp.hospitalelcalafate.gob.ar\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=572"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/ucthp.hospitalelcalafate.gob.ar\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=572"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}