Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome.

@article{Filges2011ReducedEB,
  title={Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome.},
  author={Isabel Filges and Keiko Shimojima and Nobuhiko Okamoto and Benno Roethlisberger and Peter Weber and Andreas Robert Huber and Tsutomu Nishizawa and Alexandre N. Datta and Peter Miny and Toshiyuki Yamamoto},
  journal={Journal of medical genetics},
  year={2011},
  volume={48 2},
  pages={
          117-22
        }
}
BACKGROUND Mutations of the SET binding protein 1 gene (SETBP1) on 18q12.3 have recently been reported to cause Schinzel-Giedion syndrome (SGS). As rare 18q interstitial deletions affecting multiple genes including SETBP1 correlate with a milder phenotype, including minor physical anomalies and developmental and expressive speech delay, mutations in SETBP1 are thought to result in a gain-of-function or a dominant-negative effect. However, the consequence of the SETBP1 loss-of-function has not… CONTINUE READING
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