{"id":855,"date":"2016-01-13T19:20:26","date_gmt":"2016-01-13T19:20:26","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=855"},"modified":"2026-02-25T00:18:33","modified_gmt":"2026-02-25T00:18:33","slug":"cystic-cerebellar-dysplasia-and-biallelic-lama1-mutations-a-lamininopathy-associated-with-tics-obsessive-compulsive-traits-and-myopia-due-to-cell-adhesion-and-migration-defects","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2016\/01\/13\/cystic-cerebellar-dysplasia-and-biallelic-lama1-mutations-a-lamininopathy-associated-with-tics-obsessive-compulsive-traits-and-myopia-due-to-cell-adhesion-and-migration-defects\/","title":{"rendered":"Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects (Contributed by Dr. Meral Gunay-Aygun)"},"content":{"rendered":"<p>Laminins are proteins that form a major component of basement membranes and extracellular matrix in human tissues. We have performed clinical and neuropsychiatric evaluation, and molecular analysis in patients with mutations in the <em>LAMA1<\/em> gene that codes for the protein laminin-\u03b11. We investigated the consequence of mutations in <em>LAMA1<\/em> using nerve cells derived from stem cells and patients\u2019 skin cells. Patients had cyctic cerebellar dysplasia, myopia, and retinal dystrophy, obsessive compulsive behaviors, tics, and anxiety. Skin cells had impaired adhesion, reduced migration, and abnormal morphology. Human neuronal cells without laminin-\u03b11 showed abnormal cellular extension formation marking these cells potentially useful tools for disease modeling and drug discovery. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2016\/01\/13\/jmedgenet-2015-103416\">http:\/\/jmg.bmj.com\/content\/early\/2016\/01\/13\/jmedgenet-2015-103416<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Laminins are proteins that form a major component of basement membranes and extracellular matrix in human tissues. We have performed clinical and neuropsychiatric evaluation, and molecular analysis in patients with mutations in the LAMA1 gene that codes for the protein laminin-\u03b11. We investigated the consequence of mutations in LAMA1 using nerve cells derived from stem [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2016\/01\/13\/cystic-cerebellar-dysplasia-and-biallelic-lama1-mutations-a-lamininopathy-associated-with-tics-obsessive-compulsive-traits-and-myopia-due-to-cell-adhesion-and-migration-defects\/\">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-855","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>Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects (Contributed by Dr. Meral Gunay-Aygun) - 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\/2016\/01\/13\/cystic-cerebellar-dysplasia-and-biallelic-lama1-mutations-a-lamininopathy-associated-with-tics-obsessive-compulsive-traits-and-myopia-due-to-cell-adhesion-and-migration-defects\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects (Contributed by Dr. Meral Gunay-Aygun) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Laminins are proteins that form a major component of basement membranes and extracellular matrix in human tissues. We have performed clinical and neuropsychiatric evaluation, and molecular analysis in patients with mutations in the LAMA1 gene that codes for the protein laminin-\u03b11. 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