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          Institute: MPI für molekulare Genetik     Collection: Department of Human Molecular Genetics     Display Documents



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ID: 410657.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH
Authors:Kousoulidou, Ludmila; Parkel, Sven; Zilina, Olga; Palta, Priit; Puusepp, Helen; Remm, Maido; Turner, Gillian; Boyle, Jackie; van Bokhoven, Hans; de Brouwer, Arjan; Van Esch, Hilde; Froyen, Guy; Ropers, Hans-Hilger; Chelly, Jamel; Moraine, Claude; Gecz, Jozef; Kurg, Ants; Patsalis, Philippos C.
Language:English
Date of Publication (YYYY-MM-DD):2007-09-27
Title of Journal:European Journal of Medical Genetics
Journal Abbrev.:Eur J Med Genet
Volume:50
Issue / Number:6
Start Page:399
End Page:410
Copyright:© 2007 Elsevier Masson SAS All rights reserved.
Review Status:not specified
Audience:Experts Only
Abstract / Description:The rapid advancement of high-resolution DNA copy number assessment methods revealed the significant contribution of submicroscopic genetic imbalances to abnormal phenotypes, including mental retardation. In order to detect submicroscopic genetic imbalances, we have screened 20 families with X-linked mental retardation (XLMR) using a chromosome X-specific array-MAPH platform with median resolution of 238 kb. Among the 20 families, 18 were experimental, as they were not previously screened with any microarray method, and two were blind controls with known aberrations, as they were previously screened by array-CGH. This study presents the first clinical application of chromosome X-specific array-MAPH methodology. The screening of 20 affected males from 20 unrelated XLMR families resulted in the detection of an unknown deletion, spanning a region of 7–23 kb. Family studies and population screening demonstrated that the detected deletion is an unknown rare copy number variant. One of the control samples, carrying approximately 6-Mb duplication was correctly identified, moreover it was found to be interrupted by a previously unknown 19 kb region of normal copy number. The second control 50 kb deletion was not identified, as this particular region was not covered by array-MAPH probes. This study demonstrates that the chromosome X-specific array-MAPH platform is a valuable tool for screening patients with XLMR, or other X-linked disorders, and emerges the need for introducing new high-resolution screening methods for the detection of genetic imbalances.
Free Keywords:Array-MAPH; XLMR; Copy number changes; Copy number variations; Chromosome X; Patient screening
Comment of the Author/Creator:Corresponding author:
Tel.: +357 22 39 26 00; fax: +357 22 358237.
External Publication Status:published
Document Type:Article
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:1.Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics, PO Box 23462, 1683 Nicosia, Cyprus;
2.Institute of Molecular and Cell Biology, University of Tartu/Estonia Biocentre, Tartu, Estonia;
3.Department of Genetic Medicine, Women's and Children's Hospital and Department of Pediatrics, University of Adelaide, Adelaide, Australia;
4.Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands;
5.Centre for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium;
6.Human Genome Laboratory, Dept. Molecular and Developmental Genetics, VIB, and Dept. Human Genetics, KU Leuven, Leuven, Belgium;
7.INSERM U129-ICGM, Faculte de Medecine Cochin, Paris, France;
8.Centre Hospitalier Universitaire de Tours, Service de Genetique, Hospital Bretoneau, Tours, France.
Identifiers:URL:http://www.sciencedirect.com/science?_ob=ArticleUR...
DOI:10.1016/j.ejmg.2007.09.001
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