Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility

@article{Astuti2012GermlineMI,
  title={Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility},
  author={Dewi Apri Astuti and Mark R. Morris and Wendy N. Cooper and Raymond H J Staals and Naomi C. Wake and Graham A Fews and Harmeet Gill and Dean C Gentle and Salwati Shuib and Christopher J. Ricketts and Trevor Cole and A. Essen and Richard A. van Lingen and Giovanni Neri and John M Opitz and Patrick Rump and Irene Stolte-Dijkstra and Ferenc M{\"u}ller and Ger J. M. Pruijn and F. Latif and Eamonn R Maher},
  journal={Nature Genetics},
  year={2012},
  volume={44},
  pages={277-284}
}
Perlman syndrome is a congenital overgrowth syndrome inherited in an autosomal recessive manner that is associated with Wilms tumor susceptibility. We mapped a previously unknown susceptibility locus to 2q37.1 and identified germline mutations in DIS3L2, a homolog of the Schizosaccharomyces pombe dis3 gene, in individuals with Perlman syndrome. Yeast dis3 mutant strains have mitotic abnormalities. Yeast Dis3 and its human homologs, DIS3 and DIS3L1, have exoribonuclease activity and bind to the… CONTINUE READING
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