{"id":11416,"date":"2020-04-02T15:06:26","date_gmt":"2020-04-02T13:06:26","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=11416"},"modified":"2020-04-02T15:06:26","modified_gmt":"2020-04-02T13:06:26","slug":"gene-of-the-month-march-epha2","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-march-epha2\/","title":{"rendered":"Gene of the Month &#8211; March: EPHA2"},"content":{"rendered":"<p>Researchers from Germany and Japan identified <em>EPHA2<\/em> as a new gene that causes Pendred syndrome if heterozygous mutations in the gene occur in combination with mutations in the <em>SLC26A4<\/em> gene. Pendred syndrome is an autosomal recessively inherited disorder characterized by bilateral sensorineural hearing loss and enlargement of the thyroid gland (goitre), and, in most cases, an inner ear malformation called enlarged vestibular aqueduct (EVA). While in most patients biallelic mutations in <em>SLC26A4<\/em> are detected as the underlying genetic cause, a number of patients carry monoallelic <em>SLC26A4<\/em> mutations. <em>SLC26A4<\/em> encodes pendrin, a protein which is predominantly expressed in epithelial cells of the inner ear, the thyroid gland and the kidney. It transports Cl-, I-, and HCO<sub>3<\/sub> ions into and out of cells.<\/p>\n<p>In their study, the researchers identified heterozygous mutations in <em>EPHA2<\/em> in two patients with sensorineural hearing loss and EVA who also carried a heterozygous <em>SLC26A4<\/em> mutation. Their functional animal and cell experiments revealed that the eph\/ephrin system plays an unexpected role in pendrin regulation. Ephrins and their receptors, eph receptor tyrosine kinases, form a group of molecules that are essential in cell communication. The researchers demonstrated that pendrin interacts with EphA2 and that EphA2 mutations affect correct localization of pendrin in the mouse model. Furthermore, EphA2 appears to bind not only its classical binding partner ephrin-A1 but also ephrin-B2, which also results in interaction with pendrin, although this was weaker.<\/p>\n<p>The results of the study have recently been published in <em>Nature Communication<\/em>.<\/p>\n[vc_column_text] Li M, Nishio SY, Naruse C, \u2026 Nakayama M. Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome. <em>Nat Commun<\/em> Mar 12;11(1):1343. doi: 10.1038\/s41467-020-15198-9. [\/vc_column_text]\n[mk_button dimension=&#8221;flat&#8221; size=&#8221;medium&#8221; icon=&#8221;mk-icon-long-arrow-right&#8221; icon_anim=&#8221;side&#8221; url=&#8221;https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/32165640&#8243; target=&#8221;_blank&#8221; bg_color=&#8221;#006699&#8243; btn_hover_bg=&#8221;#000000&#8243; btn_hover_txt_color=&#8221;#ffffff&#8221;]Article in PubMed[\/mk_button][mk_padding_divider size=&#8221;30&#8243;]\n","protected":false},"excerpt":{"rendered":"<p>Researchers from Germany and Japan identified EPHA2 as a new gene that causes Pendred syndrome if heterozygous mutations in the gene occur in combination with mutations in the SLC26A4 gene. Pendred syndrome is an autosomal recessively inherited disorder characterized by bilateral sensorineural hearing loss and enlargement of the thyroid gland (goitre), and, in most cases, [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[54],"tags":[],"class_list":["post-11416","post","type-post","status-publish","format-standard","hentry","category-gene-of-the-month"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Gene of the Month - March: EPHA2 - Institut f\u00fcr Humangenetik<\/title>\n<meta name=\"description\" content=\"EPHA2 has been identified as new gene associated with Pendred syndrome.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-march-epha2\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Gene of the Month - March: EPHA2 - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"EPHA2 has been identified as new gene associated with Pendred syndrome.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-march-epha2\/\" \/>\n<meta property=\"og:site_name\" content=\"Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"article:published_time\" content=\"2020-04-02T13:06:26+00:00\" \/>\n<meta name=\"author\" content=\"KB\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"KB\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"2 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-march-epha2\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-march-epha2\/\"},\"author\":{\"name\":\"KB\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/2273960540ea0d585310d12c8277e5cb\"},\"headline\":\"Gene of the Month &#8211; 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