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

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...

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Published inEuropean journal of human genetics : EJHG Vol. 23; no. 2; pp. 252 - 255
Main Authors Bieth, Eric, Eddiry, Sanaa, Gaston, Véronique, Lorenzini, Françoise, Buffet, Alexandre, Conte Auriol, Françoise, Molinas, Catherine, Cailley, Dorothée, Rooryck, Caroline, Arveiler, Benoit, Cavaillé, Jérome, Salles, Jean Pierre, Tauber, Maïthé
Format Journal Article
LanguageEnglish
Published England Nature Publishing Group 01.02.2015
Subjects
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
France
United States > US
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Summary: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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These authors contributed equally to this work.
ISSN:1018-4813
1476-5438
1476-5438
DOI:10.1038/ejhg.2014.103