A hypomorphic variant of choroideremia is associated with a novel intronic mutation that leads to exon skipping

DISCUSSION: Mild choroideremia may result from +3 or -3 splice site variants in CHM. It is presumed that the resulting mRNA transcripts may be partly functional, thereby preventing the development of the null phenotype. Choroideremia patients with such variants may present challenges for gene therapy since there may be residual transcript activity which could result in long-lasting visual function which is atypical for this disease.PMID:38273808 | DOI:10.1080/13816810.2023.2270554

Source: Ophthalmic Genetics - January 26, 2024 Category: Opthalmology Authors: William J Waldock Laura J Taylor Sian Sperring Federica Staurenghi Cristina Martinez-Fernandez de la Camara Jennifer Whitfield Penny Clouston Imran H Yusuf Robert E MacLaren Source Type: research