X-linked Lymphoproliferative Disease
- 1 December 1993
- journal article
- case report
- Published by American Medical Association (AMA) in American Journal of Diseases of Children
- Vol. 147 (12) , 1303-1305
- https://doi.org/10.1001/archpedi.1993.02160360045015
Abstract
• Objective. —To study the inheritance of the X-linked lymphoproliferative disease (XLP) locus in a German family. Design. —Haplotype segregation analysis. Setting. —Departments of Pediatrics and Human Genetics, University of Würzburg and University of Ulm, Federal Republic of Germany. Participants. —Fourteen members of a family with XLP. Interventions. —None. Measurements/Main Results. —Using molecular genetic techniques, we diagnosed the XLP status of the members of a German family. Restriction fragment length polymorphism analysis with closely linked polymorphic X-chromosomal DNA markers (Xq25-q27) revealed XLP carrier status in a female infant. Moreover, the XLP mutation was suggested to have occurred in the germ cell of the grandfather. Conclusion. —This is the first report of a paternally inherited XLP mutation. The recurrence risk for germ cell mosaicism in XLP may be similar to that of X-linked Duchenne muscular dystrophy. (AJDC. 1993;147:1303-1305)Keywords
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