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.
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.


CONCLUSIONS
This case report underlines the importance of DNA storage, pedigree analysis, and multidisciplinary care in patients with rare diseases and their families.
Department of clinical genetics, VU University Medical Center, P.O. Box 7057, 1081 HV, Amsterdam, The Netherlands, e.overwater@vumc.nl.
E
E
Overwater
Y
Y
Smulders
M
M
van der Burg
M P
MP
Lombardi
H E
HE
Meijers-Heijboer
T W
TW
Kuijpers
A C
AC
Houweling
D000293:Adolescent; D000328:Adult; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics* / Q000378:metabolism; D008232:Lymphoproliferative Disorders / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D035583:Rare Diseases / Q000235:genetics*; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein
D047908:Intracellular Signaling Peptides and Proteins; C114953:SH2D1A protein, human; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein; D004247:DNA