High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.

@article{Aretz2007HighPO,
  title={High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.},
  author={Stefan Aretz and Dietlinde Stienen and Siegfried Uhlhaas and Manfred Stolte and Mark M. Entius and Steffan Loff and Walter Back and Astrid Kaufmann and K L Keller and Stefan H. Blaas and Reiner Siebert and Stefanie Vogt and Stephanie Spranger and Elke Holinski-Feder and Lone E M Sunde and P. Propping and Waltraut Friedl},
  journal={Journal of medical genetics},
  year={2007},
  volume={44 11},
  pages={702-9}
}
BACKGROUND In patients with juvenile polyposis syndrome (JPS) the frequency of large genomic deletions in the SMAD4 and BMPR1A genes was unknown. METHODS Mutation and phenotype analysis was used in 80 unrelated patients of whom 65 met the clinical criteria for JPS (typical JPS) and 15 were suspected to have JPS. RESULTS By direct sequencing of the two genes, point mutations were identified in 30 patients (46% of typical JPS). Using MLPA, large genomic deletions were found in 14% of all… CONTINUE READING