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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

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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)
Keywords
LERI-WEILL DYSCHONDROSTEOSIS, GROWTH-HORMONE TREATMENT, RAPID DETECTION, GENE, PCR, DELETIONS, DOWNSTREAM, HAPLOINSUFFICIENCY, DEFICIENCY, GUIDELINES

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MLA
D’haene, B., 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, vol. 95, no. 6, ENDOCRINE SOC, 2010, pp. 3010–18, doi:10.1210/jc.2009-2218.
APA
D’haene, B., Hellemans, J., Craen, M., De Schepper, J., Devriendt, K., Fryns, J., … De Baere, E. (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. https://doi.org/10.1210/jc.2009-2218
Chicago author-date
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): 3010–18. https://doi.org/10.1210/jc.2009-2218.
Chicago author-date (all authors)
D’haene, B, Jan Hellemans, Margarita Craen, Jean De Schepper, K Devriendt, JP Fryns, K Keymolen, Eveline Debals, A de Klein, EM de Jong, K Segers, Anne De Paepe, Geert Mortier, Jo Vandesompele, and Elfride De Baere. 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. doi:10.1210/jc.2009-2218.
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. 2010;95(6):3010–8.
IEEE
[1]
B. D’haene 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, vol. 95, no. 6, pp. 3010–3018, 2010.
@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}},
  keywords     = {{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://doi.org/10.1210/jc.2009-2218}},
  volume       = {{95}},
  year         = {{2010}},
}

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