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 Improved molecular diagnostics of idiopathic short stature and allied disorders : quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Publication type
article
Publication
Baltimore, Md ,
Subject
Human medicine
Source (journal)
The journal of clinical endocrinology and metabolism. - Baltimore, Md
Volume/pages
95(2010) :6 , p. 3010-3018
ISSN
0021-972X
ISI
000278444000063
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
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.
E-info
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