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Improved Molecular Diagnostics of Idiopathic Short Stature and Allied Disorders: Quantitative Polymerase Chain Reaction-Based Copy Number Profiling of SHOX and Pseudoautosomal Region 1

B D'haene, JAN HELLEMANS UGent, Margarita Craen UGent, Jean De Schepper UGent, K Devriendt, JP Fryns, K Keymolen, Eveline Debals UGent, A de Klein and EM de Jong, et al. (2010) JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 95(6). p.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. (J Clin Endocrinol Metab 95: 3010-3018, 2010)
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
LERI-WEILL DYSCHONDROSTEOSIS, GROWTH-HORMONE TREATMENT, RAPID DETECTION, GENE, PCR, DELETIONS, DOWNSTREAM, HAPLOINSUFFICIENCY, DEFICIENCY, GUIDELINES
journal title
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
J. Clin. Endocrinol. Metab.
volume
95
issue
6
pages
9 pages
publisher
ENDOCRINE SOC
place of publication
CHEVY CHASE
Web of Science type
Article
Web of Science id
000278444000063
JCR category
ENDOCRINOLOGY & METABOLISM
JCR impact factor
6.495 (2010)
JCR rank
13/115 (2010)
JCR quartile
1 (2010)
ISSN
0021-972X
DOI
10.1210/jc.2009-2218
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
1002378
handle
http://hdl.handle.net/1854/LU-1002378
date created
2010-07-05 13:42:04
date last changed
2011-07-08 00:30:25
@article{1002378,
  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. (J Clin Endocrinol Metab 95: 3010-3018, 2010)},
  author       = {D'haene, B and HELLEMANS, JAN and Craen, Margarita and De Schepper, Jean and Devriendt, K and Fryns, JP and Keymolen, K and Debals, Eveline and de Klein, A and de Jong, EM and Segers, K and De Paepe, Anne and Mortier, Geert and Vandesompele, Jo and De Baere, Elfride},
  issn         = {0021-972X},
  journal      = {JOURNAL OF CLINICAL ENDOCRINOLOGY \& METABOLISM},
  keyword      = {LERI-WEILL DYSCHONDROSTEOSIS,GROWTH-HORMONE TREATMENT,RAPID DETECTION,GENE,PCR,DELETIONS,DOWNSTREAM,HAPLOINSUFFICIENCY,DEFICIENCY,GUIDELINES},
  language     = {eng},
  number       = {6},
  pages        = {3010--3018},
  publisher    = {ENDOCRINE SOC},
  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},
  url          = {http://dx.doi.org/10.1210/jc.2009-2218},
  volume       = {95},
  year         = {2010},
}

Chicago
D’haene, B, JAN HELLEMANS, Margarita Craen, Jean De Schepper, K Devriendt, JP Fryns, K Keymolen, et al. 2010. “Improved Molecular Diagnostics of Idiopathic Short Stature and Allied Disorders: Quantitative Polymerase Chain Reaction-Based Copy Number Profiling of SHOX and Pseudoautosomal Region 1.” Journal of Clinical Endocrinology & Metabolism 95 (6): 3010–3018.
APA
D’haene, B, HELLEMANS, J., Craen, M., De Schepper, J., Devriendt, K., Fryns, J., Keymolen, K., et al. (2010). Improved Molecular Diagnostics of Idiopathic Short Stature and Allied Disorders: Quantitative Polymerase Chain Reaction-Based Copy Number Profiling of SHOX and Pseudoautosomal Region 1. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 95(6), 3010–3018.
Vancouver
1.
D’haene B, HELLEMANS J, Craen M, De Schepper J, Devriendt K, Fryns J, et al. Improved Molecular Diagnostics of Idiopathic Short Stature and Allied Disorders: Quantitative Polymerase Chain Reaction-Based Copy Number Profiling of SHOX and Pseudoautosomal Region 1. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. CHEVY CHASE: ENDOCRINE SOC; 2010;95(6):3010–8.
MLA
D’haene, B, JAN HELLEMANS, Margarita Craen, et al. “Improved Molecular Diagnostics of Idiopathic Short Stature and Allied Disorders: Quantitative Polymerase Chain Reaction-Based Copy Number Profiling of SHOX and Pseudoautosomal Region 1.” JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM 95.6 (2010): 3010–3018. Print.