title: Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria.
abstract: Occludin (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 et al reported mutations in OCLN to cause band-like calcification with simplified gyration and polymicrogyria (BLC-PMG). BLC-PMG is a rare autosomal recessive syndrome, characterized 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 4 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.
authors.affiliation: Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.
authors.forename: E M
authors.identifier: 0000-0002-3498-869X
authors.initials: EM
authors.lastname: Jenkinson
authors.affiliation: Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, UK.
authors.forename: J H
authors.initials: JH
authors.lastname: Livingston
authors.affiliation: West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's Hospital NHS Foundation Trust, Birmingham, UK.
authors.forename: M C
authors.initials: MC
authors.lastname: O'Driscoll
authors.affiliation: Department of Paediatric Neurology, Paris Descartes University, Sorbonne-Paris-Cité, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
authors.forename: I
authors.initials: I
authors.lastname: Desguerre
authors.affiliation: Department of Paediatric Neurology, Paris Descartes University, Sorbonne-Paris-Cité, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
authors.forename: R
authors.initials: R
authors.lastname: Nabbout
authors.affiliation: Department of Pediatric Radiology, Hôpital Necker Enfants Malades, AP-HP, PRES Sorbonne Paris Cité, INSERM U1000 and UMR 1163, Institut Imagine, University René Descartes, Paris, France.
authors.forename: N
authors.initials: N
authors.lastname: Boddaert
authors.affiliation: Medical Genetics, Porto Hospital Center, Porto, Portugal.
authors.forename: G
authors.initials: G
authors.lastname: Soares
authors.affiliation: Centro Genética Médica, Porto, Portugal.|Medical Genetics Unit, Hospital de Braga, Braga, Portugal.
authors.forename: M
authors.initials: M
authors.lastname: Gonçalves da Rocha
authors.affiliation: Development Neurology Department, Fondazione IRCCS Istituto Neurologico "C. Besta,", Milan, Italy.
authors.forename: S
authors.initials: S
authors.lastname: D'Arrigo
authors.affiliation: Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.
authors.forename: G I
authors.initials: GI
authors.lastname: Rice
authors.affiliation: Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.|Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163, Paris, France.|Institut Imagine, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris Descartes University, Sorbonne-Paris-Cité, Paris, France.
authors.forename: Y J
authors.initials: YJ
authors.lastname: Crow
mesh_terms: D001479:Basal Ganglia / Q000378:metabolism / Q000473:pathology; D001921:Brain / Q000378:metabolism / Q000473:pathology; D002114:Calcinosis / Q000235:genetics* / Q000473:pathology; D056915:DNA Copy Number Variations / Q000235:genetics; D005260:Female; D066128:Gray Matter / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D054220:Malformations of Cortical Development / Q000235:genetics* / Q000473:pathology; D008831:Microcephaly / Q000235:genetics / Q000473:pathology; D009154:Mutation; D062793:Occludin / Q000235:genetics*; D010641:Phenotype; D065706:Polymicrogyria / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D019108:Tight Junctions / Q000473:pathology
chemical_list: C568985:OCLN protein, human; D062793:Occludin
keywords: 
  BLC-PMG; duplication; mutation; occludin