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Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

Abstract

Prader-Willi syndrome (PWS) is caused by deficiency for one or more paternally expressed imprinted transcripts within chromosome 15q11-q13, including SNURF-SNRPN and multiple small nucleolar RNAs (snoRNAs). Balanced chromosomal translocations that preserve expression of SNURF-SNRPN and centromeric genes but separate the snoRNA HBII-85 cluster from its promoter cause PWS. A microdeletion of the HBII-85 snoRNAs in a child with PWS provides, in combination with previous data, effectively conclusive evidence that deficiency of HBII-85 snoRNAs causes the key characteristics of the PWS phenotype, although some atypical features suggest that other genes in the region may make more subtle phenotypic contributions.

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Figure 1: Clinical features of the affected individual.
Figure 2: Analysis of microdeletion causing PWS and expression studies.

References

  1. Schulze, A. et al. Nat. Genet. 12, 452–454 (1996).

    Article  CAS  Google Scholar 

  2. Wirth, J. et al. Hum. Mol. Genet. 10, 201–210 (2001).

    Article  CAS  Google Scholar 

  3. Schüle, B. et al. BMC Med. Genet. 6, 18 (2005).

    Article  Google Scholar 

  4. Gallagher, R.C. et al. Am. J. Hum. Genet. 71, 669–678 (2002).

    Article  CAS  Google Scholar 

  5. Runte, M. et al. Hum. Mol. Genet. 10, 2687–2700 (2001).

    Article  CAS  Google Scholar 

  6. de los Santos, T. et al. Am. J. Hum. Genet. 67, 1067–1082 (2000).

    Article  CAS  Google Scholar 

  7. Gunay-Aygun, M. et al. Pediatrics 108, e92 (2001).

    Article  CAS  Google Scholar 

  8. Runte, M. et al. Hum. Genet. 116, 228–230 (2005).

    Article  CAS  Google Scholar 

  9. Sun, Y. et al. Hum. Mol. Genet. 5, 517–524 (1996).

    Article  CAS  Google Scholar 

  10. Kuslich, C.D. et al. Am. J. Hum. Genet. 64, 70–76 (1999).

    Article  CAS  Google Scholar 

  11. Conroy, J.M. et al. Am. J. Hum. Genet. 61, 388–394 (1997).

    Article  CAS  Google Scholar 

  12. Burger, J. et al. Am. J. Med. Genet. 111, 233–237 (2002).

    Article  Google Scholar 

  13. Kishore, S. et al. Science 311, 230–232 (2006).

    Article  CAS  Google Scholar 

  14. Ding, F. et al. PLoS ONE 3, e1709 (2008).

    Article  Google Scholar 

  15. Skryabin, B.V. et al. PLoS Genet. 3, e235 (2007).

    Article  Google Scholar 

Download references

Acknowledgements

This work was supported by US National Institutes of Health grants HD-037283 and M01-RR00188 (General Clinical Research Center), HD-024064 (Mental Retardation and Developmental Disabilities Research Center) and RR-019478 (Rare Disease Clinical Research Consortia). We thank J. Bressler for critical reading of the manuscript.

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Correspondence to Arthur L Beaudet.

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Supplementary Note, Supplementary Methods, Supplementary Tables 1 and 2 and Supplementary Figures 1 and 2 (PDF 343 kb)

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Sahoo, T., del Gaudio, D., German, J. et al. Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat Genet 40, 719–721 (2008). https://doi.org/10.1038/ng.158

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