{"id":742,"date":"2015-03-10T04:51:52","date_gmt":"2015-03-10T04:51:52","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=742"},"modified":"2026-02-25T01:09:40","modified_gmt":"2026-02-25T01:09:40","slug":"familial-periventricular-nodular-heterotopia-epilepsy-and-melnick-needles-syndrome-caused-by-a-single-flna-mutation-with-combined-gain-of-function-and-loss-of-function-effects","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2015\/03\/10\/familial-periventricular-nodular-heterotopia-epilepsy-and-melnick-needles-syndrome-caused-by-a-single-flna-mutation-with-combined-gain-of-function-and-loss-of-function-effects\/","title":{"rendered":"Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects (Contributed by Elena Parrini)"},"content":{"rendered":"<p>Loss-of-function mutations of the <em>FLNA<\/em> gene cause X-linked periventricular nodular heterotopia (PNH) while gain-of-function mutations cause the Otopalatodigital (OPD) spectrum. These two conditions are known to be mutually exclusive phenotypes. We describe a family in which a woman and her three daughters exhibited a phenotype combining PNH, epilepsy and Melnick-Needles syndrome, a skeletal disorder assigned to the OPD spectrum. All affected individuals harbored a novel non-conservative missense mutation in <em>FLNA<\/em> leading to two aberrant transcripts, one of which carries the missense mutation, plus a longer transcript resulting from intron 3 retention. Co-occurring gain-of and loss-of-function appears to cause the dual phenotype. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2015\/03\/09\/jmedgenet-2014-102959\">http:\/\/jmg.bmj.com\/content\/early\/2015\/03\/09\/jmedgenet-2014-102959<\/a> )<a href=\"https:\/\/blogs.bmj.com\/jmg\/files\/2015\/03\/DSC_0114.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-743\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2015\/03\/DSC_0114-300x150.jpg\" alt=\"DSC_0114\" width=\"300\" height=\"150\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2015\/03\/DSC_0114-300x150.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2015\/03\/DSC_0114-1024x512.jpg 1024w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Loss-of-function mutations of the FLNA gene cause X-linked periventricular nodular heterotopia (PNH) while gain-of-function mutations cause the Otopalatodigital (OPD) spectrum. These two conditions are known to be mutually exclusive phenotypes. We describe a family in which a woman and her three daughters exhibited a phenotype combining PNH, epilepsy and Melnick-Needles syndrome, a skeletal disorder assigned [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2015\/03\/10\/familial-periventricular-nodular-heterotopia-epilepsy-and-melnick-needles-syndrome-caused-by-a-single-flna-mutation-with-combined-gain-of-function-and-loss-of-function-effects\/\">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-742","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>Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects (Contributed by Elena Parrini) - 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\/2015\/03\/10\/familial-periventricular-nodular-heterotopia-epilepsy-and-melnick-needles-syndrome-caused-by-a-single-flna-mutation-with-combined-gain-of-function-and-loss-of-function-effects\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects (Contributed by Elena Parrini) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Loss-of-function mutations of the FLNA gene cause X-linked periventricular nodular heterotopia (PNH) while gain-of-function mutations cause the Otopalatodigital (OPD) spectrum. These two conditions are known to be mutually exclusive phenotypes. We describe a family in which a woman and her three daughters exhibited a phenotype combining PNH, epilepsy and Melnick-Needles syndrome, a skeletal disorder assigned [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2015\/03\/10\/familial-periventricular-nodular-heterotopia-epilepsy-and-melnick-needles-syndrome-caused-by-a-single-flna-mutation-with-combined-gain-of-function-and-loss-of-function-effects\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2015-03-10T04:51:52+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T01:09:40+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2015\/03\/DSC_0114.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"3209\" \/>\n\t<meta property=\"og:image:height\" content=\"1606\" \/>\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\\\/2015\\\/03\\\/10\\\/familial-periventricular-nodular-heterotopia-epilepsy-and-melnick-needles-syndrome-caused-by-a-single-flna-mutation-with-combined-gain-of-function-and-loss-of-function-effects\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/03\\\/10\\\/familial-periventricular-nodular-heterotopia-epilepsy-and-melnick-needles-syndrome-caused-by-a-single-flna-mutation-with-combined-gain-of-function-and-loss-of-function-effects\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects (Contributed by Elena Parrini)\",\"datePublished\":\"2015-03-10T04:51:52+00:00\",\"dateModified\":\"2026-02-25T01:09:40+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/03\\\/10\\\/familial-periventricular-nodular-heterotopia-epilepsy-and-melnick-needles-syndrome-caused-by-a-single-flna-mutation-with-combined-gain-of-function-and-loss-of-function-effects\\\/\"},\"wordCount\":132,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/03\\\/10\\\/familial-periventricular-nodular-heterotopia-epilepsy-and-melnick-needles-syndrome-caused-by-a-single-flna-mutation-with-combined-gain-of-function-and-loss-of-function-effects\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2015\\\/03\\\/DSC_0114-300x150.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/03\\\/10\\\/familial-periventricular-nodular-heterotopia-epilepsy-and-melnick-needles-syndrome-caused-by-a-single-flna-mutation-with-combined-gain-of-function-and-loss-of-function-effects\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/03\\\/10\\\/familial-periventricular-nodular-heterotopia-epilepsy-and-melnick-needles-syndrome-caused-by-a-single-flna-mutation-with-combined-gain-of-function-and-loss-of-function-effects\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/03\\\/10\\\/familial-periventricular-nodular-heterotopia-epilepsy-and-melnick-needles-syndrome-caused-by-a-single-flna-mutation-with-combined-gain-of-function-and-loss-of-function-effects\\\/\",\"name\":\"Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects (Contributed by Elena Parrini) - 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These two conditions are known to be mutually exclusive phenotypes. We describe a family in which a woman and her three daughters exhibited a phenotype combining PNH, epilepsy and Melnick-Needles syndrome, a skeletal disorder assigned [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2015\/03\/10\/familial-periventricular-nodular-heterotopia-epilepsy-and-melnick-needles-syndrome-caused-by-a-single-flna-mutation-with-combined-gain-of-function-and-loss-of-function-effects\/","og_site_name":"JMG Contact blog","article_published_time":"2015-03-10T04:51:52+00:00","article_modified_time":"2026-02-25T01:09:40+00:00","og_image":[{"width":3209,"height":1606,"url":"https:\/\/blogs.bmj.com\/jmg\/files\/2015\/03\/DSC_0114.jpg","type":"image\/jpeg"}],"author":"hqqu","twitter_card":"summary_large_image","twitter_creator":"@HuiQiQu","twitter_misc":{"Written by":"hqqu","Est. reading time":"1 minute"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/blogs.bmj.com\/jmg\/2015\/03\/10\/familial-periventricular-nodular-heterotopia-epilepsy-and-melnick-needles-syndrome-caused-by-a-single-flna-mutation-with-combined-gain-of-function-and-loss-of-function-effects\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2015\/03\/10\/familial-periventricular-nodular-heterotopia-epilepsy-and-melnick-needles-syndrome-caused-by-a-single-flna-mutation-with-combined-gain-of-function-and-loss-of-function-effects\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects (Contributed by Elena Parrini)","datePublished":"2015-03-10T04:51:52+00:00","dateModified":"2026-02-25T01:09:40+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2015\/03\/10\/familial-periventricular-nodular-heterotopia-epilepsy-and-melnick-needles-syndrome-caused-by-a-single-flna-mutation-with-combined-gain-of-function-and-loss-of-function-effects\/"},"wordCount":132,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2015\/03\/10\/familial-periventricular-nodular-heterotopia-epilepsy-and-melnick-needles-syndrome-caused-by-a-single-flna-mutation-with-combined-gain-of-function-and-loss-of-function-effects\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2015\/03\/DSC_0114-300x150.jpg","inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2015\/03\/10\/familial-periventricular-nodular-heterotopia-epilepsy-and-melnick-needles-syndrome-caused-by-a-single-flna-mutation-with-combined-gain-of-function-and-loss-of-function-effects\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2015\/03\/10\/familial-periventricular-nodular-heterotopia-epilepsy-and-melnick-needles-syndrome-caused-by-a-single-flna-mutation-with-combined-gain-of-function-and-loss-of-function-effects\/","url":"https:\/\/blogs.bmj.com\/jmg\/2015\/03\/10\/familial-periventricular-nodular-heterotopia-epilepsy-and-melnick-needles-syndrome-caused-by-a-single-flna-mutation-with-combined-gain-of-function-and-loss-of-function-effects\/","name":"Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects (Contributed by Elena Parrini) - 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