Title: A New Chromosome X Exon-Specific Microarray Platform for Screening of Patients with X-Linked Disorders
Authors: Bashiardes, Stavros
Kousoulidou, Ludmila
van Bokhoven, Hans
Ropers, Hans-Hilger
Chelly, Jamel
Moraine, Claude
de Brouwer, Arjan P. M
Van Esch, Hilde
Froyen, Guido
Patsalis, Philippos C # ×
Issue Date: Nov-2009
Publisher: American Society for Investigative Pathology and the Association for Molecular Pathology
Series Title: The Journal of Molecular Diagnostics vol:11 issue:6 pages:562-568
Article number: PMID: 19779134
Abstract: Recent studies and advances in high-density oligonucleotide arrays have shown that microdeletions; and microduplications occur at a high frequency in the human genome, causing various genetic conditions including mental retardation. Thus far little is known about the pathways leading to this disease, and implementation of microarrays is hampered by their increasing cost and complexity, underlining the need for new diagnostic tools. The aim of this study was to introduce a new targeted platform called "chromosome X exon-specific array" and to apply this new platform to screening of 20 families (including one blind positive control) with suspected X-linked mental retardation, to identify new causative X-linked mental retardation genes. The new microarray contains of 21,939 oligonucleotides covering 92.9% of all exons of all genes on chromosome X. Patient screening resulted in successful identification of the blind positive control included in the sample of 20 families, and one of the remaining 19 families was found to carry a 1.78-kilobase deletion involving all exons of pseudogene BRAF2. The BRAF2 deletion segregated in the family and was not found in 200 normal male samples, and no copy number variations are reported in this region. Further studies and focused investigation of X-linked disorders have the potential to reveal the molecular basis of human genetic pathological conditions that are caused by copy-number changes in chromosome X genes. (J Mol Diagn 2009, 11:562-568; DOI: 10.2353/jmoldx.2009.090086)
ISSN: 1525-1578
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Human Genome Laboratory
× corresponding author
# (joint) last author

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