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Eur J Hum Genet. 2015 Feb;23(2):252-5. doi: 10.1038/ejhg.2014.103. Epub 2014 Jun 11.

Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome.

Author information

1
Service de Génétique Médicale, CHU Toulouse-Purpan, Hôpital Purpan, Place du Docteur Baylac, Toulouse, France.
2
Centre de Physiopathologie de Toulouse-Purpan, INSERM UMR 1043; CNRS UMR 5282, Université Paul Sabatier, Toulouse, France.
3
1] Service de Diabétologie, Maladies Métaboliques et Nutrition, CHU Toulouse-Rangueil, Toulouse, France [2] Centre de Référence du Syndrome de Prader-Willi, Toulouse, France.
4
1] Centre de Physiopathologie de Toulouse-Purpan, INSERM UMR 1043; CNRS UMR 5282, Université Paul Sabatier, Toulouse, France [2] Centre de Référence du Syndrome de Prader-Willi, Toulouse, France.
5
Université Bordeaux, Maladies Rares, Génétique et Métabolisme EA4576, Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.
6
LBME UMR5099, CNRS IFR109, Toulouse, France.
7
1] Centre de Physiopathologie de Toulouse-Purpan, INSERM UMR 1043; CNRS UMR 5282, Université Paul Sabatier, Toulouse, France [2] Unité d'Endocrinologie, Hôpital des Enfants, CHU de Toulouse, Toulouse, France.
8
1] Centre de Physiopathologie de Toulouse-Purpan, INSERM UMR 1043; CNRS UMR 5282, Université Paul Sabatier, Toulouse, France [2] Centre de Référence du Syndrome de Prader-Willi, Toulouse, France [3] Unité d'Endocrinologie, Hôpital des Enfants, CHU de Toulouse, Toulouse, France.

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.

PMID:
24916642
PMCID:
PMC4297892
DOI:
10.1038/ejhg.2014.103
[Indexed for MEDLINE]
Free PMC Article

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