[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"detail-sidebar-cat-1-en-105":3,"doc-seo-201040-105":53,"doc-detail-201040-en":126},{"code":4,"msg":5,"data":6},0,"success",[7,14,19,24,29,34,39,44,49],{"id":8,"doc_module":9,"doc_module_name":10,"category_name":11,"show_sort_weight":12,"slug":13},11,1,"Template","Presentations",90,"presentations",{"id":15,"doc_module":9,"doc_module_name":10,"category_name":16,"show_sort_weight":17,"slug":18},12,"Resumes",80,"resumes",{"id":20,"doc_module":9,"doc_module_name":10,"category_name":21,"show_sort_weight":22,"slug":23},14,"Invoices",70,"invoices",{"id":25,"doc_module":9,"doc_module_name":10,"category_name":26,"show_sort_weight":27,"slug":28},15,"Posters",60,"posters",{"id":30,"doc_module":9,"doc_module_name":10,"category_name":31,"show_sort_weight":32,"slug":33},16,"Social Media",50,"social-media",{"id":35,"doc_module":9,"doc_module_name":10,"category_name":36,"show_sort_weight":37,"slug":38},17,"Forms",40,"forms",{"id":40,"doc_module":9,"doc_module_name":10,"category_name":41,"show_sort_weight":42,"slug":43},18,"Letters",30,"letters",{"id":45,"doc_module":9,"doc_module_name":10,"category_name":46,"show_sort_weight":47,"slug":48},21,"Paper Templates",5,"papers-templates",{"id":50,"doc_module":9,"doc_module_name":10,"category_name":51,"show_sort_weight":4,"slug":52},158,"General","general-158",{"code":4,"msg":54,"data":55},"ok",{"site_id":56,"language":57,"slug":58,"title":59,"keywords":60,"description":61,"schema_data":62,"social_meta":119,"head_meta":121,"extra_data":123,"updated_unix":125},105,"en","clinical_genetics_jenkinson_2017-comprehensive-molecular-screening-strategy-of-ocln","Clinical_genetics_Jenkinson_2017 - Comprehensive molecular screening strategy of OCLN","","Occludin (OCLN) is a tight junction protein crucial for apical intercellular connections in endothelial and epithelial tissues. Mutations in OCLN cause the rare autosomal recessive disorder BLC-PMG, marked by early-onset seizures, progressive microcephaly, severe developmental delay, and bilateral fronto-parietal predominant polymicrogyria with deep calcification. Four additional BLC-PMG cases with novel OCLN variants are reported, alongside a summary of the published mutational spectrum and a comprehensive molecular screening approach that addresses OCLN’s pseudo-gene and copy number variant challenges.",{"@graph":63,"@context":118},[64,80,101],{"@type":65,"itemListElement":66},"BreadcrumbList",[67,71,74,77],{"item":68,"name":69,"@type":70,"position":9},"https://docshare.wps.com","Home","ListItem",{"item":72,"name":10,"@type":70,"position":73},"https://docshare.wps.com/template/",2,{"item":75,"name":51,"@type":70,"position":76},"https://docshare.wps.com/template/general/",3,{"item":78,"name":59,"@type":70,"position":79},"https://docshare.wps.com/template/clinical_genetics_jenkinson_2017-comprehensive-molecular-screening-strategy-of-ocln/201040/",4,{"url":78,"name":59,"@type":81,"image":82,"author":87,"headline":59,"publisher":90,"fileFormat":93,"inLanguage":57,"description":61,"dateModified":94,"datePublished":95,"encodingFormat":93,"isAccessibleForFree":96,"interactionStatistic":97},"DigitalDocument",{"url":83,"@type":84,"width":85,"height":86},"https://docshare.wps.com/thumbnails/clinical_genetics_jenkinson_2017-comprehensive-molecular-screening-strategy-of-ocln/201040.png","ImageObject",442,249,{"name":88,"@type":89},"WPS_1786070896","Person",{"url":68,"name":91,"@type":92},"DocShare","Organization","application/vnd.openxmlformats-officedocument.wordprocessingml.document","2026-09-26","2026-09-04",true,{"@type":98,"interactionType":99,"userInteractionCount":9},"InteractionCounter",{"@type":100},"ViewAction",{"@type":102,"mainEntity":103},"FAQPage",[104,110,114],{"name":105,"@type":106,"acceptedAnswer":107},"What disorder is linked to OCLN mutations in this article?","Question",{"text":108,"@type":109},"OCLN mutations cause band-like calcification with simplified gyration and polymicrogyria (BLC-PMG), a rare autosomal recessive syndrome.","Answer",{"name":111,"@type":106,"acceptedAnswer":112},"What clinical features define BLC-PMG?",{"text":113,"@type":109},"BLC-PMG is characterized by early-onset seizures, progressive microcephaly, severe developmental delay, and deep cortical gray matter and basal ganglia calcification with symmetrical polymicrogyria.",{"name":115,"@type":106,"acceptedAnswer":116},"Why is molecular screening for OCLN technically challenging?",{"text":117,"@type":109},"Challenges include the presence of an OCLN pseudogene and copy number variants within the genetic architecture of OCLN.","https://schema.org",{"og:url":78,"og:type":120,"og:title":59,"og:site_name":91,"og:description":61},"article",{"robots":122,"canonical":78},"index,follow",{"doc_id":124,"site_id":56},201040,1790438292,{"code":4,"msg":5,"data":127},{"doc_id":124,"user_id":128,"nickname":88,"user_avatar":129,"doc_module":9,"category_id":50,"category_name":51,"doc_title":59,"doc_description":61,"doc_content":130,"file_id":131,"file_url":132,"file_type":133,"file_size":134,"view_count":73,"is_deleted":4,"is_public":9,"is_downloadable":9,"audit_status":9,"page_count":25,"language":135,"language_code":57,"site_id":56,"html_lang":57,"table_of_contents":136,"faqs":137,"seo_title":138,"seo_description":61,"update_tm":139,"read_time":47},549768072016,"https://ap-avatar.wpscdn.com/davatar_155a257f0dc6eb9ab79c44ca47cae57d","Original Article: Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria\nEmma M Jenkinson1, John H Livingston2, Mary C O’Driscoll3, Isabelle Desguerre4, Rima Nabbout4, Nathalie Boddaert5, Gabriela Soares6, Miguel Gonçalves da Rocha7,8, Stefano D'Arrigo9, Gillian I Rice1, Yanick J Crow1,10,11*\n1Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK\n2Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, UK\n3West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women’s Hospital NHS Foundation Trust\n4Department of Paediatric Neurology, Paris Descartes University, Sorbonne-Paris-Cité, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France\n5Department of Pediatric Radiology, Hôpital Necker Enfants Malades, AP-HP, University René Descartes, PRES Sorbonne Paris Cité, INSERM U1000 and UMR 1163, Institut Imagine, Paris, France\n6Medical Genetics, Porto Hospital Center, Porto, Portugal\n7Centro Genética Médica, Porto, Portugal\n8Medical Genetics Unit, Hospital de Braga, Braga, Portugal\n9Development Neurology Department, Fondazione IRCCS Istituto Neurologico “C. Besta,” 20133 Milan, Italy\n10INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, France\n11Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France\n*Corresponding author:\nYanick Crow; \u0013 HYPERLINK \"mailto:yanickcrow@mac.com\" \u0014yanickcrow@mac.com\u0015\nGenetic Medicine\nThe University of Manchester\n1st Floor, AV Hill Building, Oxford Road\nManchester M13 9PT\nAcknowledgements\nThe authors would like to thank the Exome Aggregation Consortium and the groups that provided exome variant data for comparison. YJC acknowledges funding from the Great Ormond Street Hospital Children’s Charity (V1212) and a state subsidy managed by the National Research Agency (France) under the \"Investments for the Future\" (ANR-10-IAHU-01).\nThe authors declare no competing financial interests.\nAbstract\nOccludin (OCLN) is an important component of the tight junction complex, providing apical intercellular connections between adjacent cells in endothelial and epithelial tissue. In 2010 O’Driscoll and colleagues reported mutations in OCLN to cause band-like calcification with simplified gyration and polymicrogyria (BLC-PMG). BLC-PMG is a rare autosomal recessive syndrome, characterised by early onset seizures, progressive microcephaly, severe developmental delay and deep cortical gray matter and basal ganglia calcification with symmetrical, predominantly fronto-parietal, polymicrogyria. Here we report four additional cases of BLC-PMG with novel OCLN mutations, and provide a summary of the published mutational spectrum. More generally, we describe a comprehensive molecular screening strategy taking into account the technical challenges associated with the genetic architecture of OCLN, which include the presence of a pseudo-gene and copy number variants.\nKey words\nBLC-PMG, Duplication, Mutation, Occludin,\nIntroduction\nIntercellular tight junctions provide structural integrity to epithelial and endothelial tissues, serving as highly polarized barriers vital for maintaining homeostasis. Occludin is a membrane linker protein essential for the stability and function of intercellular tight junctions \u0013 ADDIN EN.CITE \u0013 ADDIN EN.CITE.DATA \u0015\u0014(1)\u0015. In 2010, mutations in OCLN were identified as a cause of band-like calcification with simplified gyration and polymicrogyria (BLC-PMG), an autosomal recessive syndrome with prenatal onset \u0013 ADDIN EN.CITE \u0013 ADDIN EN.CITE.DATA \u0015\u0014(2)\u0015. Patients with BLC-PMG present with clinical and neuro-radiological features which can mimic the sequelae of congenital infection (a so-called pseudo-TORCH phenotype).\nFull length OCLN consis","cbCaivGE3PPjfFjS","https://ap.wps.com/l/cbCaivGE3PPjfFjS","docx",77250,"English","# Abstract\n## Key findings\n## Screening strategy and technical considerations","[{\"question\":\"What disorder is linked to OCLN mutations in this article?\",\"answer\":\"OCLN mutations cause band-like calcification with simplified gyration and polymicrogyria (BLC-PMG), a rare autosomal recessive syndrome.\"},{\"question\":\"What clinical features define BLC-PMG?\",\"answer\":\"BLC-PMG is characterized by early-onset seizures, progressive microcephaly, severe developmental delay, and deep cortical gray matter and basal ganglia calcification with symmetrical polymicrogyria.\"},{\"question\":\"Why is molecular screening for OCLN technically challenging?\",\"answer\":\"Challenges include the presence of an OCLN pseudogene and copy number variants within the genetic architecture of OCLN.\"}]","Clinical_genetics_Jenkinson_2017 - Comprehensive molecular screening strategy of OCLN | DOCX",1788515911]