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Article

A novel rearrangement of occludin causes brain calcification and renal dysfunction.

Human genetics - 1 Nov 2013

LeBlanc Marissa A, Penney Lynette S, Gaston Daniel, Shi Yuhao, Aberg Erika, Nightingale Mathew, Jiang Haiyan, Gillett Roxanne M, Fahiminiya Somayyeh, Macgillivray Christine, Wood Ellen P, Acott Philip D, Khan M Naeem, Samuels Mark E, Majewski Jacek, Orr Andrew, McMaster Christopher R, Bedard Karen

Abstract excerpt

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...

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Source

Identifiers

PMID: 23793442
DOI: 10.1007/s00439-013-1327-y

Genes

OCLN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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