Journal Article

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

Cailley, Dorothée, Buffet, Alexandre, Arveiler, Benoit, Cavaillé, Jérome, Salles, Jean Pierre, Rooryck, Caroline, Bieth, Eric, Tauber, Maïthé, Lorenzini, Françoise, Gaston, Véronique, Conte Auriol, Françoise, Molinas, Catherine, Eddiry, Sanaa

2015

Overview

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.

• Publisher: Nature Publishing Group
• Subject: Adult / Age / Chromosome 15 / Clonal deletion / DNA methylation / Female / Gene Deletion / Genes / Genetics / Genotype & phenotype / Humans / Male / Methylation / Obesity / Phenotypes / Prader-Willi syndrome / Prader-Willi Syndrome - diagnosis / Prader-Willi Syndrome - genetics / RNA, Small Nucleolar - genetics / RNA, Small Nucleolar - metabolism / Short Report