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December 1993

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

Author Affiliations

From the Children's Hospital (Drs Schuster and Kress) and the Department of Human Genetics (Drs Kress and Grimm), University of Würzburg, and the Department of Pediatrics (Dr Friedrich) University of Ulm, Federal Republic of Germany.

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)

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