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X-linked lymphoproliferative disease. Detection of a paternally inherited mutation in a German family using haplotype
V Schuster1, W Kress, W Friedrich
1Children's Hospital, University of Würzburg, 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 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.