Novel non‐contiguous exon duplication in choroideremia. Issue 1 (19th April 2017)

• Record Type: Journal Article
• Authors: Edwards, T.L.; Williams, J.; Patrício, M.I.; Simunovic, M.P.; Shanks, M.; Clouston, P.; MacLaren, R.E.
• Is Part Of: Clinical genetics. Volume 93:Issue 1(2018)
• Page Start: 144
• Page End: 148
• Publication Date: 2017-04-19
• Subjects: retinal dystrophy -- ophthalmology -- choroideremia -- genetic testing -- structural variation -- copy number variation; Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.13021
• Languages: English
• ISSNs: 0009-9163

Abstract

Abstract : The importance of establishing a genetic diagnosis in patients with a choroideremia phenotype has been underscored by the advent of gene replacement therapy for this condition. Here, we describe a complex imbalance at the CHM locus in a male patient with classical disease. At the DNA level, this imbalance consists of 2 non‐contiguous duplications (exons 1‐2 and 9‐12). Further characterization suggests the generation of 2 independent CHM transcriptional units, one of which may produce a deleted form of the Rab escort protein 1 protein. Expression of such a type of aberrant protein in photoreceptors may have important implications when considering gene therapy for this disorder. Abstract :