{"id":623,"date":"2014-01-13T20:06:18","date_gmt":"2014-01-13T20:06:18","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=623"},"modified":"2026-02-25T19:52:04","modified_gmt":"2026-02-25T19:52:04","slug":"a-syndrome-of-congenital-hyperinsulinism-and-rhabdomyolysis-is-caused-by-kcnj11-mutation","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2014\/01\/13\/a-syndrome-of-congenital-hyperinsulinism-and-rhabdomyolysis-is-caused-by-kcnj11-mutation\/","title":{"rendered":"A syndrome of congenital hyperinsulinism and rhabdomyolysis is caused by KCNJ11 mutation (Contributed by Dr Fowzan S Alkuraya)"},"content":{"rendered":"

KCNJ11 encodes an important component of the potassium channel that plays a critical role in regulating the response of beta cells in the pancrease to changes in blood glucose level.\u00a0 Mutations in this gene can cause inappropriately reduced or elevated insulin secretion.\u00a0 In a large and extended consanguineous Saudi family, we show for the first time that mutation in KCNJ11 can result not only in congenital hyperinsulinism, but can also lead to vulnerability of skeletal muscles to undergo necrosis in response to strenuous exercise (rhabdomyolysis).\u00a0 Our report expands the phenotype associated with KCNJ11 mutation in humans. (http:\/\/jmg.bmj.com\/content\/early\/2014\/01\/13\/jmedgenet-2013-102085<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

KCNJ11 encodes an important component of the potassium channel that plays a critical role in regulating the response of beta cells in the pancrease to changes in blood glucose level.\u00a0 Mutations in this gene can cause inappropriately reduced or elevated insulin secretion.\u00a0 In a large and extended consanguineous Saudi family, we show for the first […]<\/p>\n

Read More…<\/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-623","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nA syndrome of congenital hyperinsulinism and rhabdomyolysis is caused by KCNJ11 mutation (Contributed by Dr Fowzan S Alkuraya) - 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\/2014\/01\/13\/a-syndrome-of-congenital-hyperinsulinism-and-rhabdomyolysis-is-caused-by-kcnj11-mutation\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"A syndrome of congenital hyperinsulinism and rhabdomyolysis is caused by KCNJ11 mutation (Contributed by Dr Fowzan S Alkuraya) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"KCNJ11 encodes an important component of the potassium channel that plays a critical role in regulating the response of beta cells in the pancrease to changes in blood glucose level.\u00a0 Mutations in this gene can cause inappropriately reduced or elevated insulin secretion.\u00a0 In a large and extended consanguineous Saudi family, we show for the first [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2014\/01\/13\/a-syndrome-of-congenital-hyperinsulinism-and-rhabdomyolysis-is-caused-by-kcnj11-mutation\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2014-01-13T20:06:18+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T19:52:04+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\\\/2014\\\/01\\\/13\\\/a-syndrome-of-congenital-hyperinsulinism-and-rhabdomyolysis-is-caused-by-kcnj11-mutation\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/01\\\/13\\\/a-syndrome-of-congenital-hyperinsulinism-and-rhabdomyolysis-is-caused-by-kcnj11-mutation\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"A syndrome of congenital hyperinsulinism and rhabdomyolysis is caused by KCNJ11 mutation (Contributed by Dr Fowzan S Alkuraya)\",\"datePublished\":\"2014-01-13T20:06:18+00:00\",\"dateModified\":\"2026-02-25T19:52:04+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/01\\\/13\\\/a-syndrome-of-congenital-hyperinsulinism-and-rhabdomyolysis-is-caused-by-kcnj11-mutation\\\/\"},\"wordCount\":122,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/01\\\/13\\\/a-syndrome-of-congenital-hyperinsulinism-and-rhabdomyolysis-is-caused-by-kcnj11-mutation\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/01\\\/13\\\/a-syndrome-of-congenital-hyperinsulinism-and-rhabdomyolysis-is-caused-by-kcnj11-mutation\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/01\\\/13\\\/a-syndrome-of-congenital-hyperinsulinism-and-rhabdomyolysis-is-caused-by-kcnj11-mutation\\\/\",\"name\":\"A syndrome of congenital hyperinsulinism and rhabdomyolysis is caused by KCNJ11 mutation (Contributed by Dr Fowzan S Alkuraya) - 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