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December 1993

X-linked Lymphoproliferative Disease: Detection of a Paternally Inherited Mutation in a German Family Using Haplotype Analysis

Am J Dis Child. 1993;147(12):1303-1305. doi:10.1001/archpedi.1993.02160360045015

• 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)