{"id":1545,"date":"2020-09-24T17:11:53","date_gmt":"2020-09-24T17:11:53","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1545"},"modified":"2026-02-23T23:44:14","modified_gmt":"2026-02-23T23:44:14","slug":"tmem16a-deficiency-a-potentially-fatal-neonatal-disease-resulting-from-impaired-chloride-currents-2","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2020\/09\/24\/tmem16a-deficiency-a-potentially-fatal-neonatal-disease-resulting-from-impaired-chloride-currents-2\/","title":{"rendered":"TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents (Contributed by Dr. med. Julien H. Park)"},"content":{"rendered":"<p>In a consanguineous family, we identified a truncating pathogenic variant in TMEM16A. As a result, the patients develop a severe neonatal disorder mimicking necrotizing enterocolitis. Electrophysiological studies demonstrate absence of TMEM16A-mediated chloride currents and severe impairment of CFTR, the ion channel mutated in Cystic Fibrosis. Despite this, the patients had no respiratory symptoms but instead gravely impaired intestinal peristalsis, in line with previous reports from mouse models.<\/p>\n<p>By leading to CFTR deficiency without causing Cystic Fibrosis, this novel syndrome raises intriguing questions about the pathogenesis and possible treatment for a wide array of respiratory diseases. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2020\/05\/28\/jmedgenet-2020-106978\">https:\/\/jmg.bmj.com\/content\/early\/2020\/05\/28\/jmedgenet-2020-106978<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/09\/24\/tmem16a-deficiency-a-potentially-fatal-neonatal-disease-resulting-from-impaired-chloride-currents-2\/tmem16a_jmg_blogti\/\" rel=\"attachment wp-att-1546\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1546\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/09\/TMEM16A_JMG_blogti-300x135.jpg\" alt=\"\" width=\"300\" height=\"135\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/09\/TMEM16A_JMG_blogti-300x135.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/09\/TMEM16A_JMG_blogti-1024x461.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/09\/TMEM16A_JMG_blogti-768x346.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/09\/TMEM16A_JMG_blogti-640x288.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/09\/TMEM16A_JMG_blogti.jpg 1466w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>In a consanguineous family, we identified a truncating pathogenic variant in TMEM16A. As a result, the patients develop a severe neonatal disorder mimicking necrotizing enterocolitis. Electrophysiological studies demonstrate absence of TMEM16A-mediated chloride currents and severe impairment of CFTR, the ion channel mutated in Cystic Fibrosis. Despite this, the patients had no respiratory symptoms but instead [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/09\/24\/tmem16a-deficiency-a-potentially-fatal-neonatal-disease-resulting-from-impaired-chloride-currents-2\/\">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-1545","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents (Contributed by Dr. med. Julien H. Park) - 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\/2020\/09\/24\/tmem16a-deficiency-a-potentially-fatal-neonatal-disease-resulting-from-impaired-chloride-currents-2\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents (Contributed by Dr. med. Julien H. Park) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"In a consanguineous family, we identified a truncating pathogenic variant in TMEM16A. As a result, the patients develop a severe neonatal disorder mimicking necrotizing enterocolitis. Electrophysiological studies demonstrate absence of TMEM16A-mediated chloride currents and severe impairment of CFTR, the ion channel mutated in Cystic Fibrosis. Despite this, the patients had no respiratory symptoms but instead [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2020\/09\/24\/tmem16a-deficiency-a-potentially-fatal-neonatal-disease-resulting-from-impaired-chloride-currents-2\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2020-09-24T17:11:53+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T23:44:14+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/09\/TMEM16A_JMG_blogti.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1466\" \/>\n\t<meta property=\"og:image:height\" content=\"660\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\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\\\/2020\\\/09\\\/24\\\/tmem16a-deficiency-a-potentially-fatal-neonatal-disease-resulting-from-impaired-chloride-currents-2\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/09\\\/24\\\/tmem16a-deficiency-a-potentially-fatal-neonatal-disease-resulting-from-impaired-chloride-currents-2\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents (Contributed by Dr. med. 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