Identification of an Alu‐repeat‐mediated deletion of OPTN upstream region in a patient with a complex ocular phenotype

We report the first regulatory region deletion involving OPTN and caused by Alu‐mediated non‐allelic homologous recombination in a patient with ocular dysgenesis and glaucoma. Optineurin is involved in various cellular functions including protein trafficking, protein secretion, cell division, antiviral/antibacterial signaling and thus its misexpression may have diverse negative effects on normal formation of ocular structures.

Source: Molecular Genetics & Genomic Medicine - May 1, 2015 Category: Genetics & Stem Cells Authors: Kala F. Schilter, Linda M. Reis, Elena A. Sorokina, Elena V. Semina Tags: Original Article Source Type: research