title: X-linked lymphoproliferative disease. Detection of a paternally inherited mutation in a German family using haplotype analysis.
abstract: 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.
authors.affiliation: Children's Hospital, University of Würzburg, Germany.
authors.forename: V
authors.initials: V
authors.lastname: Schuster
authors.forename: W
authors.initials: W
authors.lastname: Kress
authors.forename: W
authors.initials: W
authors.lastname: Friedrich
authors.forename: T
authors.initials: T
authors.lastname: Grimm
authors.forename: H W
authors.initials: HW
authors.lastname: Kreth
mesh_terms: 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
chemical_list: D005819:Genetic Markers