{"id":212,"date":"2017-12-01T10:55:04","date_gmt":"2017-12-01T10:55:04","guid":{"rendered":"https:\/\/www-menarah-org.kentuniresestg.wpengine.com\/?p=212"},"modified":"2024-01-08T09:55:13","modified_gmt":"2024-01-08T09:55:13","slug":"novel-mutation-in-sepiapterin-reductase-causes-autosomal-dominant-dopa-responsive-dystonia","status":"publish","type":"post","link":"https:\/\/menarah.org\/ar\/novel-mutation-in-sepiapterin-reductase-causes-autosomal-dominant-dopa-responsive-dystonia\/","title":{"rendered":"\u0637\u0641\u0631\u0629 \u062c\u062f\u064a\u062f\u0629 \u0641\u064a \u0627\u062e\u062a\u0632\u0627\u0644 \u0633\u064a\u0628\u064a\u0627\u0628\u062a\u0631\u064a\u0646 \u062a\u0633\u0628\u0628 \u062e\u0644\u0644 \u0627\u0644\u062a\u0648\u062a\u0631 \u0627\u0644\u0639\u0636\u0644\u064a \u0627\u0644\u0645\u0633\u062a\u062c\u064a\u0628 \u0644\u0644\u062f\u0648\u0628\u0627"},"content":{"rendered":"<p><strong>\u0645\u0648\u0636\u0648\u0639\u064a:<\/strong>&nbsp;\u0644\u062a\u0648\u0636\u064a\u062d \u0627\u0644\u0633\u0628\u0628 \u0627\u0644\u0648\u0631\u0627\u062b\u064a \u0644\u0639\u0627\u0626\u0644\u0629 \u0645\u0635\u0631\u064a\u0629 \u0645\u0635\u0627\u0628\u0629 \u0628\u062e\u0644\u0644 \u0627\u0644\u062a\u0648\u062a\u0631 \u0627\u0644\u0639\u0636\u0644\u064a \u0627\u0644\u0645\u0633\u062a\u062c\u064a\u0628 \u0644\u0644\u062f\u0648\u0628\u0627 (DRD)\u060c \u0648\u0647\u0648 \u062e\u0644\u0644 \u0627\u0644\u062a\u0648\u062a\u0631 \u0627\u0644\u0639\u0636\u0644\u064a \u0627\u0644\u0630\u064a \u064a\u0628\u062f\u0623 \u0641\u064a \u0645\u0631\u062d\u0644\u0629 \u0627\u0644\u0637\u0641\u0648\u0644\u0629\u060c \u0648\u064a\u0633\u062a\u062c\u064a\u0628 \u0639\u0644\u0627\u062c\u064a\u064b\u0627 \u0644\u0644\u064a\u0641\u0648\u062f\u0648\u0628\u0627\u060c \u0648\u0627\u0644\u0630\u064a \u064a\u0633\u0628\u0628\u0647 \u0637\u0641\u0631\u0627\u062a \u0641\u064a \u062c\u064a\u0646\u0627\u062a \u0645\u062e\u062a\u0644\u0641\u0629.<\/p>\n\n\n\n<p><strong>\u0637\u064f\u0631\u0642:<\/strong>&nbsp;\u0627\u0644\u0645\u062a\u063a\u064a\u0631\u0627\u062a \u0627\u0644\u0646\u0627\u062f\u0631\u0629 \u0641\u064a \u062c\u0645\u064a\u0639 \u0625\u0643\u0633\u0648\u0646\u0627\u062a \u0627\u0644\u062a\u0631\u0645\u064a\u0632&nbsp;<em>GCH1<\/em>&nbsp;\u062a\u0645 \u0627\u0633\u062a\u0628\u0639\u0627\u062f\u0647\u0627 \u0628\u0648\u0627\u0633\u0637\u0629 \u062a\u0633\u0644\u0633\u0644 \u0633\u0627\u0646\u062c\u0631. \u062a\u0645 \u062a\u0637\u0628\u064a\u0642 \u062a\u0633\u0644\u0633\u0644 Exome \u0639\u0644\u0649 \u0641\u0631\u062f \u0648\u0627\u062d\u062f \u063a\u064a\u0631 \u0645\u062a\u0623\u062b\u0631 \u0648\u0627\u062b\u0646\u064a\u0646 \u0645\u0646 \u0623\u0641\u0631\u0627\u062f \u0627\u0644\u0623\u0633\u0631\u0629 \u0627\u0644\u0645\u062a\u0623\u062b\u0631\u064a\u0646. \u0644\u0644\u062a\u062d\u0642\u064a\u0642 \u0641\u064a \u0627\u0644\u0639\u0648\u0627\u0642\u0628 \u0627\u0644\u0648\u0638\u064a\u0641\u064a\u0629 \u0644\u0644\u0645\u062a\u063a\u064a\u0631\u0627\u062a \u0627\u0644\u062c\u064a\u0646\u064a\u0629 \u0627\u0644\u0645\u0643\u062a\u0634\u0641\u0629\u060c \u062a\u0645 \u062a\u062d\u062f\u064a\u062f \u062a\u0631\u0643\u064a\u0632\u0627\u062a \u0633\u064a\u0628\u064a\u0627\u0628\u062a\u0631\u064a\u0646 \u0627\u0644\u0628\u0648\u0644\u064a\u0629 \u0628\u0648\u0627\u0633\u0637\u0629 \u062a\u062d\u0644\u064a\u0644 \u0643\u0631\u0648\u0645\u0627\u062a\u0648\u062c\u0631\u0627\u0641\u064a \u0633\u0627\u0626\u0644 \u0639\u0627\u0644\u064a \u0627\u0644\u0623\u062f\u0627\u0621.<\/p>\n\n\n\n<p><strong>\u0646\u062a\u0627\u0626\u062c:<\/strong>&nbsp;\u0645\u062a\u063a\u064a\u0631 \u0645\u062a\u063a\u0627\u064a\u0631 \u0627\u0644\u0632\u064a\u062c\u0648\u062a \u0646\u0627\u062f\u0631 \u063a\u064a\u0631 \u0645\u0639\u0631\u0648\u0641 \u0641\u064a \u0625\u0643\u0633\u0648\u0646 1 \u0645\u0646 \u0627\u062e\u062a\u0632\u0627\u0644 \u0633\u064a\u0628\u064a\u0627\u0628\u062a\u0631\u064a\u0646 (<em>SPR<\/em>\u060c c.207C&gt;G\u060c p.Asp69Glu) \u062a\u0645 \u0627\u0644\u0639\u062b\u0648\u0631 \u0639\u0644\u064a\u0647 \u0641\u064a \u062c\u0645\u064a\u0639 \u0623\u0641\u0631\u0627\u062f \u0627\u0644\u0623\u0633\u0631\u0629 \u0627\u0644\u0645\u062a\u0636\u0631\u0631\u064a\u0646. \u0643\u0627\u0646\u062a \u0627\u0644\u062a\u0631\u0643\u064a\u0632\u0627\u062a \u0627\u0644\u0628\u0648\u0644\u064a\u0629 \u0644\u0644\u0633\u064a\u0628\u064a\u0627\u0628\u062a\u0631\u064a\u0646 \u0623\u0639\u0644\u0649 \u0645\u0646 \u0645\u0633\u062a\u0648\u0649 \u0627\u0644\u0636\u0648\u0627\u0628\u0637 \u0627\u0644\u0637\u0628\u064a\u0639\u064a\u0629 \u0641\u064a \u0645\u0639\u0638\u0645 \u0627\u0644\u062d\u0627\u0644\u0627\u062a&nbsp;<em>SPR<\/em>&nbsp;\u062d\u0627\u0645\u0644\u0627\u062a \u0627\u0644\u0637\u0641\u0631\u0629\u060c \u0645\u0645\u0627 \u064a\u0634\u064a\u0631 \u0625\u0644\u0649 \u0639\u0648\u0627\u0642\u0628 \u0643\u064a\u0645\u064a\u0627\u0626\u064a\u0629 \u062d\u064a\u0648\u064a\u0629 \u0648\u0638\u064a\u0641\u064a\u0629 \u0644\u0644\u0637\u0641\u0631\u0629. \u0643\u0634\u0641 \u0627\u0644\u062a\u0631\u0634\u064a\u062d \u0627\u0644\u0645\u062a\u063a\u064a\u0631 \u0644\u062c\u0645\u064a\u0639 \u0627\u0644\u062c\u064a\u0646\u0627\u062a \u0627\u0644\u0645\u0634\u0627\u0631\u0643\u0629 \u0641\u064a \u0645\u0633\u0627\u0631 \u0631\u0628\u0627\u0639\u064a \u0647\u064a\u062f\u0631\u0648\u0628\u064a\u0648\u0628\u062a\u0631\u064a\u0646\u060c \u0648\u0627\u0644\u0645\u0637\u0644\u0648\u0628 \u0644\u062a\u062e\u0644\u064a\u0642 \u0627\u0644\u0644\u064a\u0641\u0648\u062f\u0648\u0628\u0627\u060c \u0639\u0646 \u0645\u062a\u063a\u064a\u0631 \u0634\u0627\u0626\u0639 \u0625\u0636\u0627\u0641\u064a \u0641\u064a \u0625\u0646\u0632\u064a\u0645 \u062b\u0646\u0627\u0626\u064a \u0647\u064a\u062f\u0631\u0648\u0641\u0648\u0644\u0627\u062a \u0627\u0644\u0645\u062e\u062a\u0632\u0644 (<em>\u062f\u0641\u0631<\/em>\u060c rs70991108). \u0643\u0627\u0646 \u0648\u062c\u0648\u062f \u0643\u0644\u0627 \u0627\u0644\u0645\u062a\u063a\u064a\u0631\u064a\u0646 \u0623\u0642\u0648\u0649 \u0628\u0634\u0643\u0644 \u0645\u0644\u062d\u0648\u0638 \u0645\u0631\u062a\u0628\u0637\u064b\u0627 \u0628\u0627\u0644\u062e\u0644\u0644 \u0627\u0644\u0643\u064a\u0645\u064a\u0627\u0626\u064a \u0627\u0644\u062d\u064a\u0648\u064a \u0648\u062d\u0627\u0644\u0629 \u0627\u0644\u0645\u0631\u0636 \u0627\u0644\u0633\u0631\u064a\u0631\u064a\u0629 \u0645\u0642\u0627\u0631\u0646\u0629\u064b \u0628\u0645\u062a\u063a\u064a\u0631 \u0648\u0627\u062d\u062f \u0641\u0642\u0637.<\/p>\n\n\n\n<p><strong>\u0627\u0644\u0627\u0633\u062a\u0646\u062a\u0627\u062c\u0627\u062a:<\/strong>&nbsp;\u0647\u0646\u0627\u0643&nbsp;<em>SPR<\/em>&nbsp;\u064a\u0645\u0643\u0646 \u0623\u0646 \u062a\u0633\u0628\u0628 \u0627\u0644\u0637\u0641\u0631\u0629 DRD \u062c\u0633\u0645\u064a\u0629 \u0633\u0627\u0626\u062f\u0629 \u0645\u0639 \u0627\u062e\u062a\u0631\u0627\u0642 \u063a\u064a\u0631 \u0643\u0627\u0645\u0644. \u0627\u0644\u0634\u0627\u0626\u0639&nbsp;<em>\u062f\u0641\u0631<\/em>&nbsp;\u0642\u062f \u064a\u0643\u0648\u0646 \u0644\u0644\u0645\u062a\u063a\u064a\u0631 \u062a\u0623\u062b\u064a\u0631\u0627\u062a \u062a\u0622\u0632\u0631\u064a\u0629 \u0639\u0644\u0649 \u0625\u0646\u062a\u0627\u062c \u0631\u0628\u0627\u0639\u064a \u0647\u064a\u062f\u0631\u0648\u0628\u064a\u0648\u0628\u062a\u0631\u064a\u0646 \u0648\u0627\u0644\u0644\u064a\u0641\u0648\u062f\u0648\u0628\u0627\u060c \u0648\u0628\u0627\u0644\u062a\u0627\u0644\u064a \u0632\u064a\u0627\u062f\u0629 \u0627\u0644\u0627\u062e\u062a\u0631\u0627\u0642.<\/p>\n\n\n\n<p>\u0634\u0644\u0627\u0634 \u0623\u060c \u0631\u0648\u0633\u0644\u0631 \u062a\u064a\u060c \u0645\u0648\u0644\u0631 \u0625\u0633\u060c&nbsp;<strong>\u0633\u0644\u0627\u0645\u0629<\/strong> M\u060c Dueschl G\u060c Mueller U\u060c Opladen T\u060c Petersen BS\u060c Franke A\u060c Hopfner F\u060c Kuhlenbaeumer G\u060c Hoglinger G. (2017) <a href=\"https:\/\/ng.neurology.org\/content\/3\/6\/e197\">\u0637\u0641\u0631\u0629 \u062c\u062f\u064a\u062f\u0629 \u0641\u064a \u0627\u062e\u062a\u0632\u0627\u0644 \u0633\u064a\u0628\u064a\u0627\u0628\u062a\u0631\u064a\u0646 \u062a\u0633\u0628\u0628 \u062e\u0644\u0644 \u0627\u0644\u062a\u0648\u062a\u0631 \u0627\u0644\u0639\u0636\u0644\u064a \u0627\u0644\u0645\u0633\u062a\u062c\u064a\u0628 \u0644\u0644\u062f\u0648\u0628\u0627<\/a>. \u0639\u0644\u0645 \u0627\u0644\u0623\u0639\u0635\u0627\u0628: \u0639\u0644\u0645 \u0627\u0644\u0648\u0631\u0627\u062b\u0629. \u062f\u0648\u0649:10.1212\/NXG.0000000000000197: 2376-7839<\/p>","protected":false},"excerpt":{"rendered":"<p>Objective:&nbsp;To elucidate the genetic cause of an Egyptian family with dopa-responsive dystonia (DRD), a childhood-onset dystonia, responding therapeutically to levodopa, which is caused by mutations in various genes. Methods:&nbsp;Rare variants in all coding exons of&nbsp;GCH1&nbsp;were excluded by Sanger sequencing. Exome sequencing was applied for 1 unaffected and 2 affected family members. To investigate the functional [&hellip;]<\/p>\n","protected":false},"author":20,"featured_media":349,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[5,17],"tags":[23,61,95],"class_list":{"0":"post-212","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-international_learning","8":"category-publications","9":"tag-23","10":"tag-health","11":"tag-research"},"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Novel mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystonia - Menarah<\/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:\/\/menarah.org\/ar\/novel-mutation-in-sepiapterin-reductase-causes-autosomal-dominant-dopa-responsive-dystonia\/\" \/>\n<meta property=\"og:locale\" content=\"ar_AR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Novel mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystonia - Menarah\" \/>\n<meta property=\"og:description\" content=\"Objective:&nbsp;To elucidate the genetic cause of an Egyptian family with dopa-responsive dystonia (DRD), a childhood-onset dystonia, responding therapeutically to levodopa, which is caused by mutations in various genes. Methods:&nbsp;Rare variants in all coding exons of&nbsp;GCH1&nbsp;were excluded by Sanger sequencing. Exome sequencing was applied for 1 unaffected and 2 affected family members. 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