ArticleHuman genetics2013
A novel rearrangement of occludin causes brain calcification and renal dysfunction.
Article in Human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 27 citations in OpenAlex.
- Sheep erythrocyte potassium locus highlights MYADM family regulation of electroneutral potassium chloride cotransporters (KCC).BMC genomics · 2026Article
- Occludin-mediated barrier dysfunction and its role in cardiovascular and cerebrovascular pathogenesis.Frontiers in cardiovascular medicine · 2026Review
- Case report: Novel insights into hemorrhagic destruction of the brain, subependymal calcification, and cataracts disease.Frontiers in pediatrics · 2023Article
- A Case Report and Literature Review of Pseudo-TORCH Syndrome Type 2 (PTORCH2).Case reports in pediatrics · 2022Article
- Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies.AJNR. American journal of neuroradiology · 2022Review
- Tight Junctions in Cell Proliferation.International journal of molecular sciences · 2019Review
- Occludin knockdown is not sufficient to induce transepithelial macromolecule passage.Tissue barriers · 2019Article
- Whole exome sequencing: a state-of-the-art approach for defining (and exploring!) genetic landscapes in pediatric nephrology.Pediatric nephrology (Berlin, Germany) · 2018Review
- The inner blood-retinal barrier: Cellular basis and development.Vision research · 2017Review
- Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations.Journal of human genetics · 2017Article
- Dentin sialoprotein facilitates dental mesenchymal cell differentiation and dentin formation.Scientific reports · 2017Article
- Deafness in occludin-deficient mice with dislocation of tricellulin and progressive apoptosis of the hair cells.Biology open · 2014Article
- Article
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Authors and funding
18 authors at 6 institutions in 1 country.
Funding
Abstract
Pediatric intracranial calcification may be caused by inherited or acquired factors. We describe the identification of a novel rearrangement in which a downstream pseudogene translocates into exon 9 of OCLN, resulting in band-like brain calcification and advanced chronic kidney disease in early childhood. SNP genotyping and read-depth variation from whole exome sequencing initially pointed to a mutation in the OCLN gene. The high degree of identity between OCLN and two pseudogenes required a combination of multiplex ligation-dependent probe amplification, PCR, and Sanger sequencing to identify the genomic rearrangement that was the underlying genetic cause of the disease. Mutations in exon 3, or at the 5-6 intron splice site, of OCLN have been reported to cause brain calcification and polymicrogyria with no evidence of extra-cranial phenotypes. Of the OCLN splice variants described, all make use of exon 9, while OCLN variants that use exons 3, 5, and 6 are tissue specific. The genetic rearrangement we identified in exon 9 provides a plausible explanation for the expanded clinical phenotype observed in our individuals. Furthermore, the lack of polymicrogyria associated with the rearrangement of OCLN in our patients extends the range of cranial defects that can be observed due to OCLN mutations.
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Registered trials
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