Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome.

@article{Klein2014ExpandingTP,
  title={Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome.},
  author={Steven D Klein and Hane Lee and Shahnaz Ghahremani and Pamela H Kempert and Mariam Ischander and Michael A Teitell and Stanley F. Nelson and Julian A Martinez-Agosto},
  journal={Journal of medical genetics},
  year={2014},
  volume={51 5},
  pages={294-302}
}
BACKGROUND Constitutional DICER1 mutations have been associated with pleuropulmonary blastoma, cystic nephroma, Sertoli-Leydig tumours and multinodular goitres, while somatic DICER1 mutations have been reported in additional tumour types. Here we report a novel syndrome termed GLOW, an acronym for its core phenotypic findings, which include Global developmental delay, Lung cysts, Overgrowth and Wilms tumour caused by mutations in the RNase IIIb domain of DICER1. METHODS AND RESULTS We… CONTINUE READING