Recessive mutations in the gene encoding the tight junction protein occluding cause band-like calcification with simplified gyration and polymicrogyria

Autozygosity mapping and copy number analysis was performed to identify intragenic deletion and mutations in OCLN in nine patients from six families with band-like calcification with simplified gyration and polymicrogyria (BLC-PMG). The study suggested that the tight junction protein occludin (encoded by the OCLN gene) in cerebral blood vessels which play a vital role in maintenance of the blood-brain barrier during postnatal life is involved in the pathogenesis of malformations of cortical development.