Journal article

Novel non-contiguous exon duplication in choroideremia

TL Edwards, J Williams, MI Patricio, MP Simunovic, M Shanks, P Clouston, RE MacLaren

CLINICAL GENETICS | WILEY | Published : 2018


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.