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Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria
Open accessAbstract
Band-like calcification with simplified gyration and polymicrogyria (BLC-PMG) is a rare autosomal-recessive neurological disorder showing highly characteristic clinical and neuroradiological features. Affected individuals demonstrate early-onset seizures, severe microcephaly, and developmental arrest with bilateral, symmetrical polymicrogyria (PMG) and a band of gray matter calcification on brain imaging; as such, the disorder can be considered as a "pseudo-TORCH" syndrome. By using autozygosity mapping and copy number analysis we identified intragenic deletions and mutations in OCLN in nine patients from six families with BLC-PMG. The OCLN gene encodes occludin, an integral component of tight junctions. Neuropathological analysis of an affected individual showed similarity to the mouse model of occludin deficiency with calcification predominantly associated with blood vessels. Both intracranial calcification and PMG are heterogeneous in etiology. Neuropathological and clinical studies of PMG have suggested that in utero ischemic or vascular insults may contribute to this common cortical abnormality. Tight junctions are functional in cerebral blood vessels early in fetal development and continue to play a vital role in maintenance of the blood-brain barrier during postnatal life. We provide evidence that the tight junction protein occludin (encoded by the OCLN gene) is involved in the pathogenesis of malformations of cortical development.
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“Interestingly, Ocln knockout mice develop brain calcifications (515), similar as humans with OCLN mutations (448), as discussed below.”
From Blood-Brain Barrier: From Physiology to Disease and Back (2019) · cites this paper as [448]
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“Mutations in OCLN gene in humans encoding the TJ endothelial protein occludin lead to development of severe neurological syndrome known as pseudo-TORCH 1 that is characterized with bands of gray matter calcification on neuroimaging, severe microcephaly with simplified gyration and polymicrogyria, early-onset seizures, and developmental delay (448).”
From Blood-Brain Barrier: From Physiology to Disease and Back (2019) · cites this paper as [448]
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Metadata
- Authors
- O'Driscoll, M. C., Daly, S. B., Urquhart, J. E., Black, G. C. M., Pilz, D. T., Brockmann, K., McEntagart, M., Abdel-Salam, G., Zaki, M., Wolf, N. I., Ladda, R. L., Sell, S., D'Arrigo, S., Squier, W., Dobyns, W. B., Livingston, J. H., & Crow, Y. J.
- Affiliations
- Manchester Academic Health Science Centre (GB)
- University Hospital of Wales (GB)
- University of Göttingen (DE)
- St George's Hospital (GB)
- National Research Centre (EG)
- Heidelberg University (DE)
- Pennsylvania State University (US)
- John Radcliffe Hospital (GB)
- University of Chicago (US)
- Leeds General Infirmary (GB)
- Corresponding author
- Crow, Yanick J.
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2010-09
- Volume
- 87
- Issue
- 3
- Pages
- 354-364
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC2933344
- OpenAlex
- W2019678790
- Cited by
- 145
- References
- 70
- Citations by year
- 2026: 6 · 2025: 5 · 2024: 10 · 2023: 7 · 2022: 17 · 2021: 8 · 2020: 15 · 2019: 7 · 2018: 7 · 2017: 12 · 2016: 8 · 2015: 9 · 2014: 10 · 2013: 7 · 2012: 10
- FWCI
- 7.00
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion)
- Research Explorer (The University of Manchester) (publishedVersion)
- Digital Academic REpository of VU University Amsterdam (Vrije Universiteit Amsterdam) (submittedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- GRO (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
- Funders
- Wellcome Trust
- National Institute for Health and Care Research
- University of Southampton
- University of Manchester
- Manchester Biomedical Research Centre
- Topics
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
- Life Sciences › Neuroscience › Neurology › Barrier Structure and Function Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- occludin, tight junctions, autosomal recessive inheritance, intragenic deletion, malformations of cortical development, blood-brain barrier, intracranial calcification, microcephaly, seizures, homozygosity mapping, copy number analysis
- MeSH terms
- Animals, Base Sequence, Calcinosis, Cerebral Cortex, Chromosomes, Human, Pair 5, Consanguinity, DNA Mutational Analysis, Gene Expression Regulation, Homozygote, Humans, Infant, Infant, Newborn, Magnetic Resonance Imaging, Membrane Proteins, Molecular Sequence Data, Mutation, Software, In Situ Hybridization, Tight Junctions, Mice, Malformations of Cortical Development, Occludin
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