OCLN sequencing

OCLN sequencing

Band-like calcification with simplified gyration and Polymicrogyria (BLC-PMG), or “pseudo-TORCH” syndrome is a rare autosomal recessive neurological disorder with highly characteristic clinical and neuroradiologic features. Affected individuals demonstrate early-onset seizures, severe microcephaly and developmental delay. Brain CT and MRI imaging show a prominent band of cortical gray matter calcification, as well as calcification in the cerebellum and basal ganglia, in addition to bilateral, symmetric polymicrogyria (PMG).

Intragenic deletions and mutations in the OCLN gene have been identified in patients with the pseudo-TORCH syndrome. Homozygous and compound heterozygous mutations in OCLN were identified in nine individuals from six families of Turkish, Egyptian, Mexican and British ancestry. We offer sequencing of coding exons 2-5 and their intron/exon boundaries only.