Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria.

Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria.
Clin Genet. 2017 Apr 07;:
Authors: Jenkinson EM, Livingston JH, O'Driscoll MC, Desguerre I, Nabbout R, Boddaert N, Soares G, Gonçalves da Rocha M, D'Arrigo S, Rice GI, Crow YJ
Abstract
Occludin (OCLN) is an important component of the tight junction complex, providing apical intercellular connections between adjacent cells in endothelial and epithelial tissue. In 2010 O'Driscoll and colleagues reported mutations in OCLN to cause band-like calcification with simplified gyration and polymicrogyria (BLC-PMG). BLC-PMG is a rare autosomal recessive syndrome, characterised by early onset seizures, progressive microcephaly, severe developmental delay and deep cortical gray matter and basal ganglia calcification with symmetrical, predominantly fronto-parietal, polymicrogyria. Here we report four additional cases of BLC-PMG with novel OCLN mutations, and provide a summary of the published mutational spectrum. More generally, we describe a comprehensive molecular screening strategy taking into account the technical challenges associated with the genetic architecture of OCLN, which include the presence of a pseudo-gene and copy number variants.
PMID: 28386946 [PubMed - as supplied by publisher]

Source: Clinical Genetics - April 7, 2017 Category: Genetics & Stem Cells Authors: Jenkinson EM, Livingston JH, O'Driscoll MC, Desguerre I, Nabbout R, Boddaert N, Soares G, Gonçalves da Rocha M, D'Arrigo S, Rice GI, Crow YJ Tags: Clin Genet Source Type: research