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

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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 languageUndefined/Unknown
Pages (from-to)1695-1698
Number of pages4
JournalEuropean Journal of Pediatrics
Issue number12
Publication statusPublished - 2014

Research programs

  • EMC MM-02-72-03

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