A new candidate region for the positional cloning of the XLP gene

Alessandra Bolino, Luo Yin, Marco Seri, Roberto Cusano, Roberta Cinti, Alison Coffey, Robert Brooksbank, Gareth Howell, David Bentley, Jack R. Davis, Arpad Lanyi, Doli Huang, Markus Stark, Martina Creaven, Lise Bjørkhaug, Fabrice Heitzmann, Jérôme Lamartine, Simona Gaudi, Bakary S. Sylla, Gilbert M. LenoirElio Castagnola, Raffaella Giacchino, Giovanni Porta, Brunella Franco, Massimo Zollo, Janos Sumegi, Giovanni Romeo

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

X-linked lymphoproliferative disease (XLP) is an inherited immunodeficiency characterised by selective susceptibility to Epstein-Barr virus and frequent association with malignant lymphomas chiefly located in the ileocecal region, liver, kidney and CNS. Taking advantage of a large bacterial clone contig, we obtained a genomic sequence of 197620 bp encompassing a deletion (XLP-D) of 116 kb in an XLP family, whose breakpoints were identified. The study of potential exons from this region in 40 unrelated XLP patients did not reveal any mutation. To define the critical region for XLP and investigate the role of the XLP-D deletion, detailed haplotypes in a region of approximately 20 cM were reconstructed in a total of 87 individuals from 7 families with recurrence of XLP. Two recombination events in a North American family and a new microdeletion (XLP-G) in an Italian family indicate that the XLP gene maps in the interval between DXS1001 and DXS8057, approximately 800 kb centromeric to the previously reported familial microdeletion XLP-D.

Original languageEnglish
Pages (from-to)509-517
Number of pages9
JournalEuropean Journal of Human Genetics
Volume6
Issue number5
DOIs
Publication statusPublished - Jan 1 1998

Keywords

  • Epstein-Barr virus
  • Familial microdeletions
  • Immunodeficiency
  • Intestinal lymphomas

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Bolino, A., Yin, L., Seri, M., Cusano, R., Cinti, R., Coffey, A., Brooksbank, R., Howell, G., Bentley, D., Davis, J. R., Lanyi, A., Huang, D., Stark, M., Creaven, M., Bjørkhaug, L., Heitzmann, F., Lamartine, J., Gaudi, S., Sylla, B. S., ... Romeo, G. (1998). A new candidate region for the positional cloning of the XLP gene. European Journal of Human Genetics, 6(5), 509-517. https://doi.org/10.1038/sj.ejhg.5200249