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High-resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X-linked blue cone monochromacy.

dc.contributor.author Yatsenko, SA
dc.contributor.author Bakos, HA
dc.contributor.author Vitullo, K
dc.contributor.author Kedrov, M
dc.contributor.author Kishore, A
dc.contributor.author Jennings, BJ
dc.contributor.author Surti, U
dc.contributor.author Wood-Trageser, MA
dc.contributor.author Cercone, S
dc.contributor.author Yatsenko, AN
dc.contributor.author Rajkovic, A
dc.contributor.author Iannaccone, A
dc.coverage.spatial Denmark
dc.date.accessioned 2016-12-18T17:29:55Z
dc.date.issued 2016-01
dc.identifier http://www.ncbi.nlm.nih.gov/pubmed/26153062
dc.identifier.uri https://hdl.handle.net/10161/13282
dc.description.abstract 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.
dc.language eng
dc.relation.ispartof Clin Genet
dc.relation.isversionof 10.1111/cge.12638
dc.subject X chromosome
dc.subject X-linked disease
dc.subject Xq28 deletion
dc.subject aCGH
dc.subject blue cone monochromacy
dc.subject color vision
dc.subject Chromosome Aberrations
dc.subject Chromosome Breakpoints
dc.subject Chromosome Deletion
dc.subject Chromosomes, Human, X
dc.subject Color Vision Defects
dc.subject Comparative Genomic Hybridization
dc.subject Consanguinity
dc.subject Gene Order
dc.subject Genetic Diseases, X-Linked
dc.subject Heterozygote
dc.subject Humans
dc.subject Male
dc.subject Oligonucleotide Array Sequence Analysis
dc.subject Pedigree
dc.title High-resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X-linked blue cone monochromacy.
dc.type Journal article
pubs.author-url http://www.ncbi.nlm.nih.gov/pubmed/26153062
pubs.begin-page 82
pubs.end-page 87
pubs.issue 1
pubs.organisational-group Clinical Science Departments
pubs.organisational-group Duke
pubs.organisational-group Ophthalmology
pubs.organisational-group Ophthalmology, Vitreoretinal Diseases & Surgery
pubs.organisational-group School of Medicine
pubs.publication-status Published
pubs.volume 89
dc.identifier.eissn 1399-0004


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