Comprehensive molecular screening strategy of OCLN in band‐like calcification with simplified gyration and polymicrogyria |
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| Authors: | EM Jenkinson JH Livingston MC O'Driscoll I Desguerre R Nabbout N Boddaert G Soares M Gonçalves da Rocha S D'Arrigo GI Rice YJ Crow |
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| Affiliation: | 1. Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK;2. Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, UK;3. West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's Hospital NHS Foundation Trust, Birmingham, UK;4. Department of Paediatric Neurology, Paris Descartes University, Sorbonne‐Paris‐Cité, H?pital Necker Enfants Malades, Assistance Publique‐H?pitaux de Paris, Paris, France;5. Department of Pediatric Radiology, H?pital Necker Enfants Malades, AP‐HP, PRES Sorbonne Paris Cité, INSERM U1000 and UMR 1163, Institut Imagine, University René Descartes, Paris, France;6. Medical Genetics, Porto Hospital Center, Porto, Portugal;7. Centro Genética Médica, Porto, Portugal;8. Medical Genetics Unit, Hospital de Braga, Braga, Portugal;9. Development Neurology Department, Fondazione IRCCS Istituto Neurologico “C. Besta,”, Milan, Italy;10. Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163, Paris, France;11. Institut Imagine, H?pital Necker Enfants Malades, Assistance Publique‐H?pitaux de Paris, Paris Descartes University, Sorbonne‐Paris‐Cité, Paris, France |
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| 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. |
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| Keywords: |
BLC‐PMG duplication mutation occludin |
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