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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References
Schulze, A. et al. Nat. Genet. 12, 452–454 (1996).
Wirth, J. et al. Hum. Mol. Genet. 10, 201–210 (2001).
Schüle, B. et al. BMC Med. Genet. 6, 18 (2005).
Gallagher, R.C. et al. Am. J. Hum. Genet. 71, 669–678 (2002).
Runte, M. et al. Hum. Mol. Genet. 10, 2687–2700 (2001).
de los Santos, T. et al. Am. J. Hum. Genet. 67, 1067–1082 (2000).
Gunay-Aygun, M. et al. Pediatrics 108, e92 (2001).
Runte, M. et al. Hum. Genet. 116, 228–230 (2005).
Sun, Y. et al. Hum. Mol. Genet. 5, 517–524 (1996).
Kuslich, C.D. et al. Am. J. Hum. Genet. 64, 70–76 (1999).
Conroy, J.M. et al. Am. J. Hum. Genet. 61, 388–394 (1997).
Burger, J. et al. Am. J. Med. Genet. 111, 233–237 (2002).
Kishore, S. et al. Science 311, 230–232 (2006).
Ding, F. et al. PLoS ONE 3, e1709 (2008).
Skryabin, B.V. et al. PLoS Genet. 3, e235 (2007).
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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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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DOI: https://doi.org/10.1038/ng.158
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