{"id":1846,"date":"2023-04-19T15:26:43","date_gmt":"2023-04-19T15:26:43","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1846"},"modified":"2026-02-23T00:13:49","modified_gmt":"2026-02-23T00:13:49","slug":"variants-in-the-gene-dna2-causes-rothmund-thomson-syndrome-like-presentation","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2023\/04\/19\/variants-in-the-gene-dna2-causes-rothmund-thomson-syndrome-like-presentation\/","title":{"rendered":"Variants in the gene DNA2 causes Rothmund-Thomson syndrome-like presentation (Contributed by Dr. Debora Romeo Bertola)"},"content":{"rendered":"<p>Rothmund-Thomson syndrome is a rare genetic disorder caused by variants in both copies of <em>ANAPC1<\/em> or <em>RECQL4 <\/em>genes. We report on six Brazilian individuals and two siblings of Swiss\/Portuguese ancestry who presented severe short stature, poikiloderma and congenital ocular anomalies. Genomic analysis revealed that all patients harbored variants in both copies of <em>DNA2<\/em>, one variant, of probable Portuguese ancestry, common to all the individuals. <em>DNA2<\/em> has been previously associated with a severe short stature condition. This report broadens the clinical findings associated to <em>DNA2<\/em>, similar to the ones observed in Rothmund-Thomson syndrome. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2023\/04\/12\/jmg-2022-109119\">https:\/\/jmg.bmj.com\/content\/early\/2023\/04\/12\/jmg-2022-109119<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Rothmund-Thomson syndrome is a rare genetic disorder caused by variants in both copies of ANAPC1 or RECQL4 genes. We report on six Brazilian individuals and two siblings of Swiss\/Portuguese ancestry who presented severe short stature, poikiloderma and congenital ocular anomalies. Genomic analysis revealed that all patients harbored variants in both copies of DNA2, one variant, [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/04\/19\/variants-in-the-gene-dna2-causes-rothmund-thomson-syndrome-like-presentation\/\">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-1846","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>Variants in the gene DNA2 causes Rothmund-Thomson syndrome-like presentation (Contributed by Dr. Debora Romeo Bertola) - 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\/2023\/04\/19\/variants-in-the-gene-dna2-causes-rothmund-thomson-syndrome-like-presentation\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Variants in the gene DNA2 causes Rothmund-Thomson syndrome-like presentation (Contributed by Dr. Debora Romeo Bertola) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Rothmund-Thomson syndrome is a rare genetic disorder caused by variants in both copies of ANAPC1 or RECQL4 genes. We report on six Brazilian individuals and two siblings of Swiss\/Portuguese ancestry who presented severe short stature, poikiloderma and congenital ocular anomalies. Genomic analysis revealed that all patients harbored variants in both copies of DNA2, one variant, [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2023\/04\/19\/variants-in-the-gene-dna2-causes-rothmund-thomson-syndrome-like-presentation\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2023-04-19T15:26:43+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T00:13:49+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\\\/2023\\\/04\\\/19\\\/variants-in-the-gene-dna2-causes-rothmund-thomson-syndrome-like-presentation\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/04\\\/19\\\/variants-in-the-gene-dna2-causes-rothmund-thomson-syndrome-like-presentation\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Variants in the gene DNA2 causes Rothmund-Thomson syndrome-like presentation (Contributed by Dr. Debora Romeo Bertola)\",\"datePublished\":\"2023-04-19T15:26:43+00:00\",\"dateModified\":\"2026-02-23T00:13:49+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/04\\\/19\\\/variants-in-the-gene-dna2-causes-rothmund-thomson-syndrome-like-presentation\\\/\"},\"wordCount\":116,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/04\\\/19\\\/variants-in-the-gene-dna2-causes-rothmund-thomson-syndrome-like-presentation\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/04\\\/19\\\/variants-in-the-gene-dna2-causes-rothmund-thomson-syndrome-like-presentation\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/04\\\/19\\\/variants-in-the-gene-dna2-causes-rothmund-thomson-syndrome-like-presentation\\\/\",\"name\":\"Variants in the gene DNA2 causes Rothmund-Thomson syndrome-like presentation (Contributed by Dr. Debora Romeo Bertola) - 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His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.\",\"sameAs\":[\"https:\\\/\\\/x.com\\\/HuiQiQu\"],\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/author\\\/hqiqu\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Variants in the gene DNA2 causes Rothmund-Thomson syndrome-like presentation (Contributed by Dr. Debora Romeo Bertola) - JMG Contact blog","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/blogs.bmj.com\/jmg\/2023\/04\/19\/variants-in-the-gene-dna2-causes-rothmund-thomson-syndrome-like-presentation\/","og_locale":"en_US","og_type":"article","og_title":"Variants in the gene DNA2 causes Rothmund-Thomson syndrome-like presentation (Contributed by Dr. Debora Romeo Bertola) - JMG Contact blog","og_description":"Rothmund-Thomson syndrome is a rare genetic disorder caused by variants in both copies of ANAPC1 or RECQL4 genes. 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