Abstract
The SNORD116 locus lies in the 15q11-13 region of paternally expressed genes implicated in Prader–Willi Syndrome (PWS), a complex disease accompanied by obesity and severe neurobehavioural disturbances. Cases of PWS patients with a deletion encompassing the SNORD116 gene cluster, but preserving the expression of flanking genes, have been described. We report a 23-year-old woman who presented clinical criteria of PWS, including the behavioural and nutritional features, obesity, developmental delay and endocrine dysfunctions with hyperghrelinemia. We found a paternally transmitted highly restricted deletion of the SNORD116 gene cluster, the shortest described to date (118 kb). This deletion was also present in the father. This finding in a human case strongly supports the current hypothesis that lack of the paternal SNORD116 gene cluster has a determinant role in the pathogenesis of PWS. Moreover, targeted analysis of the SNORD116 gene cluster, complementary to SNRPN methylation analysis, should be carried out in subjects with a phenotype suggestive of PWS.
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Acknowledgements
We thank the patient and her family. SE was the recipient of a grant from Pfizer (grant 08766A10). This work was part of the National Programme for Clinical Research from the French government (PHRC) (grant 0811601) and the Clinical Research Programme of Midi Pyrénées (grant 09004797). We thank Sandoz France and Ipsen France for financial support.
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Bieth, E., Eddiry, S., Gaston, V. et al. Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome. Eur J Hum Genet 23, 252–255 (2015). https://doi.org/10.1038/ejhg.2014.103
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DOI: https://doi.org/10.1038/ejhg.2014.103
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