Germline Gain-of-Function Mutations in AFF4 Cause a Developmental Syndrome Functionally Linking the Super Elongation Complex and Cohesin

@inproceedings{Izumi2015GermlineGM,
  title={Germline Gain-of-Function Mutations in AFF4 Cause a Developmental Syndrome Functionally Linking the Super Elongation Complex and Cohesin},
  author={Kosuke Izumi and Ryuichiro Nakato and Zhe Zhang and Andrew C. Edmondson and Sarah E. Noon and Matthew C. Dulik and Ramakrishnan Rajagopalan and Charles P Venditti and Karen W Gripp and Joy Samanich and Elaine H. Zackai and Matthew A Deardorff and Dinah M Clark and Julian L. Allen and Dale Dorsett and Ziva Misulovin and Makiko Komata and Masashige Bando and Maninder Kaur and Yuki Katou and Katsuhiko Shirahige and Ian D. Krantz},
  booktitle={Nature Genetics},
  year={2015}
}
Transcriptional elongation is critical for gene expression regulation during embryogenesis. The super elongation complex (SEC) governs this process by mobilizing paused RNA polymerase II (RNAP2). Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for heart… CONTINUE READING

Citations

Publications citing this paper.
SHOWING 1-10 OF 32 CITATIONS

Use of nutritional devices in Cornelia de Lange syndrome: Data from a large Italian cohort.

  • American journal of medical genetics. Part A
  • 2018
VIEW 1 EXCERPT
HIGHLY INFLUENCED

References

Publications referenced by this paper.
SHOWING 1-10 OF 39 REFERENCES

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

P Cingolani
  • Fly (Austin)
  • 2012