High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome.

  title={High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome.},
  author={Stefan Aretz and Dietlinde Stienen and Siegfried Uhlhaas and Steffan Loff and Walter Back and Constanze Pagenstecher and D R Mcleod and Gail E. Graham and Elisabeth Mangold and Ren{\'e} Santer and P. Propping and Waltraut Friedl},
  journal={Human mutation},
  volume={26 6},
Germline mutations in the STK11 gene have been identified in 10-70% of patients with Peutz-Jeghers syndrome (PJS), an autosomal-dominant hamartomatous polyposis syndrome. A second locus was assumed in a large proportion of PJS patients. To date, STK11 alterations comprise mainly point mutations; only a small number of large deletions have been reported. We performed a mutation analysis for the STK11 gene in 71 patients. Of these, 56 met the clinical criteria for PJS and 12 were presumed to have… CONTINUE READING
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