X-linked lymphoproliferative disease. Detection of a paternally inherited mutation in a German family using haplotype analysis.
OBJECTIVE
To study the inheritance of the X-linked lymphoproliferative disease (XLP) locus in a German family.


METHODS
Haplotype segregation analysis.


METHODS
Departments of Pediatrics and Human Genetics, University of Würzburg and University of Ulm, Federal Republic of Germany.


METHODS
Fourteen members of a family with XLP.


METHODS
None.


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.


CONCLUSIONS
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.
Schuster
V
V
Children's Hospital, University of Würzburg, Germany.
Kress
W
W
Friedrich
W
W
Grimm
T
T
Kreth
H W
HW
D001483:Base Sequence; D002675:Child, Preschool; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D007223:Infant; D008232:Lymphoproliferative Disorders / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D014960:X Chromosome
D005819:Genetic Markers