X-linked lymphoproliferative disease. Detection of a paternally inherited mutation in a German family using haplotype analysis

V. Schuster, W. Kress, W. Friedrich, T. Grimm and H. W. Kreth
Children's Hospital, University of Wurzburg, Germany.

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 Wurzburg 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.