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Title: Improved Molecular Diagnostics of Idiopathic Short Stature and Allied Disorders: Quantitative Polymerase Chain Reaction-Based Copy Number Profiling of SHOX and Pseudoautosomal Region 1
Authors: D'haene, Barbara ×
Hellemans, Jan
Craen, Margarita
De Schepper, Jean
Devriendt, Koenraad
Fryns, Jean-Pierre
Keymolen, Kathelijn
Debals, Eveline
de Klein, Annelies
de Jong, Elisabeth M
Segers, Karin
De Paepe, Anne
Mortier, Geert
Vandesompele, Jo
De Baere, Elfride #
Issue Date: Jun-2010
Publisher: Issued for the Endocrine Society by the Williams & Wilkins Co.
Series Title: Journal of Clinical Endocrinology & Metabolism vol:95 issue:6 pages:3010-3018
Abstract: Context: Short stature has an incidence of three in 100 in children. Reliable molecular genetic testing may be crucial in the context of beneficial disease management. Deletions spanning or surrounding the SHOX gene account for a significant proportion of patients with idiopathic short stature (ISS) and allied disorders, such as Leri-Weill dyschondrosteosis. Objective: Several shortcomings of current strategies for copy number profiling of the SHOX region prompted us to develop an improved test for molecular diagnostics of the SHOX region. Design and Results: We introduced a quantitative PCR (qPCR)-based copy number profiling test, consisting of 11 amplicons targeting clinically relevant regions, i.e. the SHOX gene and regulatory regions. To ensure an optimal sensitivity and specificity, this test was validated in 32 controls and 18 probands with previously identified copy number changes. In addition, 152 probands with SHOX-associated phenotypes were screened, revealing 10 novel copy number changes. Conclusion: This highly validated qPCR test supersedes other approaches for copy number screening of the SHOX region in terms of reliability, accuracy, and cost efficiency. In addition, another strong point is the fact that it can be easily implemented in any standard equipped molecular laboratory. Our qPCR-based test is highly recommended for molecular diagnostics of idiopathic short stature and allied disorders.
URI: 
ISSN: 0021-972X
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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