High-resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X-linked blue cone monochromacy.
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The human X chromosome contains ∼ 1600 genes, about 15% of which have been associated with a specific genetic condition, mainly affecting males. Blue cone monochromacy (BCM) is an X-linked condition caused by a loss-of-function of both the OPN1LW and OPN1MW opsin genes. The cone opsin gene cluster is composed of 2-9 paralogs with 99.8% sequence homology and is susceptible to deletions, duplications, and mutations. Current diagnostic tests employ polymerase chain reaction (PCR)-based technologies; however, alterations remain undetermined in 10% of patients. Furthermore, carrier testing in females is limited or unavailable. High-resolution X chromosome-targeted CGH microarray was applied to test for rearrangements in males with BCM and female carriers from three unrelated families. Pathogenic alterations were revealed in all probands, characterized by sequencing of the breakpoint junctions and quantitative real-time PCR. In two families, we identified a novel founder mutation that consisted of a complex 3-kb deletion that embraced the cis-regulatory locus control region and insertion of an additional aberrant OPN1MW gene. The application of high-resolution X-chromosome microarray in clinical diagnosis brings significant advantages in detection of small aberrations that are beyond the resolution of clinically available aCGH analysis and which can improve molecular diagnosis of the known conditions and unravel previously unrecognized X-linked diseases.
blue cone monochromacy
Chromosomes, Human, X
Color Vision Defects
Comparative Genomic Hybridization
Genetic Diseases, X-Linked
Oligonucleotide Array Sequence Analysis
Published Version (Please cite this version)10.1111/cge.12638
Publication InfoYatsenko, SA; Bakos, HA; Vitullo, K; Kedrov, M; Kishore, A; Jennings, BJ; ... Iannaccone, A (2016). High-resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X-linked blue cone monochromacy. Clin Genet, 89(1). pp. 82-87. 10.1111/cge.12638. Retrieved from https://hdl.handle.net/10161/13282.
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Professor of Ophthalmology
Alessandro Iannaccone, MD, MS, FARVO is Professor of Ophthalmology at the Duke University Department of Ophthalmology, in Durham, NC, where he serves as the Director of the newly established Center for Retinal Degenerations and Ophthalmic Genetic Diseases. Prior to joining Duke University on September 2016, Dr. Iannaccone was an Associate Professor of Ophthalmology at the Hamilton Eye Institute in Memphis, TN, where he served as the founding Director of the Retinal Degenerations & O
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