The value of DNA storage and pedigree analysis in rare diseases: a 17-year-old boy with X-linked lymphoproliferative disease (XLP) caused by a de novo SH2D1A mutation

E Overwater; Y Smulders; Mirjam van der Burg; MP Lombardi; HE Meijers-Heijboer; TW Kuijpers; AC Houweling

doi:10.1007/s00431-014-2313-7

The value of DNA storage and pedigree analysis in rare diseases: a 17-year-old boy with X-linked lymphoproliferative disease (XLP) caused by a de novo SH2D1A mutation

E Overwater, Y Smulders, Mirjam van der Burg, MP Lombardi, HE Meijers-Heijboer, TW Kuijpers, AC Houweling

Immunology

External organisation

Research output: Contribution to journal › Article › Academic › peer-review

7 Citations (Scopus)

Abstract

We present a case of a fatal Epstein-Barr infection in a 17-year-old male patient suspected to be caused by X-linked lymphoproliferative disease. At the time of hospitalization, DNA diagnostics was not available. The suspected diagnosis was confirmed several years later when a SH2D1A missense mutation was identified in stored patient DNA. Extended pedigree analysis showed that this mutation occurred de novo in his mother. In addition, we provide a summary of the currently listed SH2D1A mutations. Conclusion: This case report underlines the importance of DNA storage, pedigree analysis, and multidisciplinary care in patients with rare diseases and their families.

Original language	Undefined/Unknown
Pages (from-to)	1695-1698
Number of pages	4
Journal	European Journal of Pediatrics
Volume	173
Issue number	12
DOIs	https://doi.org/10.1007/s00431-014-2313-7
Publication status	Published - 2014

Research programs

EMC MM-02-72-03

Access to Document

10.1007/s00431-014-2313-7

http://hdl.handle.net/1765/71748

Cite this

Overwater, E., Smulders, Y., van der Burg, M., Lombardi, MP., Meijers-Heijboer, HE., Kuijpers, TW., & Houweling, AC. (2014). The value of DNA storage and pedigree analysis in rare diseases: a 17-year-old boy with X-linked lymphoproliferative disease (XLP) caused by a de novo SH2D1A mutation. European Journal of Pediatrics, 173(12), 1695-1698. https://doi.org/10.1007/s00431-014-2313-7

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abstract = "We present a case of a fatal Epstein-Barr infection in a 17-year-old male patient suspected to be caused by X-linked lymphoproliferative disease. At the time of hospitalization, DNA diagnostics was not available. The suspected diagnosis was confirmed several years later when a SH2D1A missense mutation was identified in stored patient DNA. Extended pedigree analysis showed that this mutation occurred de novo in his mother. In addition, we provide a summary of the currently listed SH2D1A mutations. Conclusion: This case report underlines the importance of DNA storage, pedigree analysis, and multidisciplinary care in patients with rare diseases and their families.",

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Overwater, E, Smulders, Y, van der Burg, M, Lombardi, MP, Meijers-Heijboer, HE, Kuijpers, TW & Houweling, AC 2014, 'The value of DNA storage and pedigree analysis in rare diseases: a 17-year-old boy with X-linked lymphoproliferative disease (XLP) caused by a de novo SH2D1A mutation', European Journal of Pediatrics, vol. 173, no. 12, pp. 1695-1698. https://doi.org/10.1007/s00431-014-2313-7

The value of DNA storage and pedigree analysis in rare diseases: a 17-year-old boy with X-linked lymphoproliferative disease (XLP) caused by a de novo SH2D1A mutation. / Overwater, E; Smulders, Y; van der Burg, Mirjam et al.
In: European Journal of Pediatrics, Vol. 173, No. 12, 2014, p. 1695-1698.

Research output: Contribution to journal › Article › Academic › peer-review

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AB - We present a case of a fatal Epstein-Barr infection in a 17-year-old male patient suspected to be caused by X-linked lymphoproliferative disease. At the time of hospitalization, DNA diagnostics was not available. The suspected diagnosis was confirmed several years later when a SH2D1A missense mutation was identified in stored patient DNA. Extended pedigree analysis showed that this mutation occurred de novo in his mother. In addition, we provide a summary of the currently listed SH2D1A mutations. Conclusion: This case report underlines the importance of DNA storage, pedigree analysis, and multidisciplinary care in patients with rare diseases and their families.

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