title: Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome.
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.
authors.affiliation: Service de Génétique Médicale, CHU Toulouse-Purpan, Hôpital Purpan, Place du Docteur Baylac, Toulouse, France.
authors.forename: Eric
authors.initials: E
authors.lastname: Bieth
authors.affiliation: Centre de Physiopathologie de Toulouse-Purpan, INSERM UMR 1043; CNRS UMR 5282, Université Paul Sabatier, Toulouse, France.
authors.forename: Sanaa
authors.initials: S
authors.lastname: Eddiry
authors.affiliation: Service de Génétique Médicale, CHU Toulouse-Purpan, Hôpital Purpan, Place du Docteur Baylac, Toulouse, France.
authors.forename: Véronique
authors.initials: V
authors.lastname: Gaston
authors.affiliation: 1] Service de Diabétologie, Maladies Métaboliques et Nutrition, CHU Toulouse-Rangueil, Toulouse, France [2] Centre de Référence du Syndrome de Prader-Willi, Toulouse, France.
authors.forename: Françoise
authors.initials: F
authors.lastname: Lorenzini
authors.affiliation: Service de Génétique Médicale, CHU Toulouse-Purpan, Hôpital Purpan, Place du Docteur Baylac, Toulouse, France.
authors.forename: Alexandre
authors.initials: A
authors.lastname: Buffet
authors.affiliation: Centre de Physiopathologie de Toulouse-Purpan, INSERM UMR 1043; CNRS UMR 5282, Université Paul Sabatier, Toulouse, France.
authors.forename: Françoise
authors.initials: F
authors.lastname: Conte Auriol
authors.affiliation: 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.
authors.forename: Catherine
authors.initials: C
authors.lastname: Molinas
authors.affiliation: Université Bordeaux, Maladies Rares, Génétique et Métabolisme EA4576, Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.
authors.forename: Dorothée
authors.initials: D
authors.lastname: Cailley
authors.affiliation: Université Bordeaux, Maladies Rares, Génétique et Métabolisme EA4576, Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.
authors.forename: Caroline
authors.initials: C
authors.lastname: Rooryck
authors.affiliation: Université Bordeaux, Maladies Rares, Génétique et Métabolisme EA4576, Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.
authors.forename: Benoit
authors.initials: B
authors.lastname: Arveiler
authors.affiliation: LBME UMR5099, CNRS IFR109, Toulouse, France.
authors.forename: Jérome
authors.initials: J
authors.lastname: Cavaillé
authors.affiliation: 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.
authors.forename: Jean Pierre
authors.initials: JP
authors.lastname: Salles
authors.affiliation: 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.
authors.forename: Maïthé
authors.initials: M
authors.lastname: Tauber
mesh_terms: D000328:Adult; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D011218:Prader-Willi Syndrome / Q000175:diagnosis / Q000235:genetics*; D020537:RNA, Small Nucleolar / Q000235:genetics* / Q000378:metabolism
chemical_list: D020537:RNA, Small Nucleolar; C000601579:SNORD116 RNA, human