{"id":2226,"date":"2026-09-04T15:30:02","date_gmt":"2026-09-04T15:30:02","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2226"},"modified":"2026-09-04T15:30:02","modified_gmt":"2026-09-04T15:30:02","slug":"exploring-the-clinical-and-mutational-spectrum-of-morc2-associated-disorders-contributed-by-dr-aysylu-murtazina","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2026\/09\/04\/exploring-the-clinical-and-mutational-spectrum-of-morc2-associated-disorders-contributed-by-dr-aysylu-murtazina\/","title":{"rendered":"Exploring the clinical and mutational spectrum of MORC2-associated disorders (Contributed by Dr Aysylu Murtazina)"},"content":{"rendered":"<p>Pathogenic variants in the <em>MORC2 <\/em>gene cause two distinct conditions: Charcot\u2013Marie\u2013Tooth disease type 2Z, an isolated peripheral neuropathy, and DIGFAN syndrome, a more severe neurodevelopmental disorder with early onset. Analyzing our patients and previously described cases with early-onset phenotype, we show that DIGFAN syndrome can be stratified into two neurological subtypes: one predominantly neuromuscular, the other predominantly affecting the central nervous system. Western blot analysis of protein expression levels revealed no significant difference between variants associated with these distinct clinical phenotypes, indicating that reduced protein expression alone does not account for phenotypic variability. Further studies are required to clarify the molecular mechanisms underlying this genotype\u2013phenotype relationship. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2026\/08\/27\/jmg-2025-110787\">https:\/\/jmg.bmj.com\/content\/early\/2026\/08\/27\/jmg-2025-110787<\/a>)<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Pathogenic variants in the MORC2 gene cause two distinct conditions: Charcot\u2013Marie\u2013Tooth disease type 2Z, an isolated peripheral neuropathy, and DIGFAN syndrome, a more severe neurodevelopmental disorder with early onset. Analyzing our patients and previously described cases with early-onset phenotype, we show that DIGFAN syndrome can be stratified into two neurological subtypes: one predominantly neuromuscular, the [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2026\/09\/04\/exploring-the-clinical-and-mutational-spectrum-of-morc2-associated-disorders-contributed-by-dr-aysylu-murtazina\/\">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-2226","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.7 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Exploring the clinical and mutational spectrum of MORC2-associated disorders (Contributed by Dr Aysylu Murtazina) - 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\/2026\/09\/04\/exploring-the-clinical-and-mutational-spectrum-of-morc2-associated-disorders-contributed-by-dr-aysylu-murtazina\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Exploring the clinical and mutational spectrum of MORC2-associated disorders (Contributed by Dr Aysylu Murtazina) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Pathogenic variants in the MORC2 gene cause two distinct conditions: Charcot\u2013Marie\u2013Tooth disease type 2Z, an isolated peripheral neuropathy, and DIGFAN syndrome, a more severe neurodevelopmental disorder with early onset. Analyzing our patients and previously described cases with early-onset phenotype, we show that DIGFAN syndrome can be stratified into two neurological subtypes: one predominantly neuromuscular, the [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2026\/09\/04\/exploring-the-clinical-and-mutational-spectrum-of-morc2-associated-disorders-contributed-by-dr-aysylu-murtazina\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2026-09-04T15:30:02+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\\\/2026\\\/09\\\/04\\\/exploring-the-clinical-and-mutational-spectrum-of-morc2-associated-disorders-contributed-by-dr-aysylu-murtazina\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/09\\\/04\\\/exploring-the-clinical-and-mutational-spectrum-of-morc2-associated-disorders-contributed-by-dr-aysylu-murtazina\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Exploring the clinical and mutational spectrum of MORC2-associated disorders (Contributed by Dr Aysylu Murtazina)\",\"datePublished\":\"2026-09-04T15:30:02+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/09\\\/04\\\/exploring-the-clinical-and-mutational-spectrum-of-morc2-associated-disorders-contributed-by-dr-aysylu-murtazina\\\/\"},\"wordCount\":132,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/09\\\/04\\\/exploring-the-clinical-and-mutational-spectrum-of-morc2-associated-disorders-contributed-by-dr-aysylu-murtazina\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/09\\\/04\\\/exploring-the-clinical-and-mutational-spectrum-of-morc2-associated-disorders-contributed-by-dr-aysylu-murtazina\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/09\\\/04\\\/exploring-the-clinical-and-mutational-spectrum-of-morc2-associated-disorders-contributed-by-dr-aysylu-murtazina\\\/\",\"name\":\"Exploring the clinical and mutational spectrum of MORC2-associated disorders (Contributed by Dr Aysylu Murtazina) - 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