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

Eric Bieth1, Sanaa Eddiry2, Véronique Gaston1

  • 1Service de Génétique Médicale, CHU Toulouse-Purpan, Hôpital Purpan, Place du Docteur Baylac, Toulouse, France.

European Journal of Human Genetics : EJHG
|June 12, 2014
PubMed

Insights

A rare deletion in the SNORD116 gene cluster, crucial for Prader-Willi Syndrome (PWS) development, was identified in a patient and her father. This finding reinforces the role of SNORD116 in PWS pathogenesis.

Area of Science:

  • Genetics
  • Molecular Biology
  • Neuroscience

Background:

  • Prader-Willi Syndrome (PWS) is a complex genetic disorder associated with the 15q11-13 region, characterized by obesity and neurobehavioral issues.
  • PWS is linked to paternally expressed genes, including the SNORD116 gene cluster.

Observation:

  • A 23-year-old woman presented with PWS clinical criteria, including behavioral and nutritional problems, obesity, developmental delay, and hyperghrelinemia.
  • A highly restricted, 118 kb paternal deletion of the SNORD116 gene cluster was identified in the patient.

Findings:

  • The identified deletion, the shortest reported to date, was also present in the patient's father, confirming paternal transmission.
  • This case provides strong evidence for the critical role of the paternal SNORD116 gene cluster in PWS pathogenesis.

Implications:

  • Targeted analysis of the SNORD116 gene cluster should be considered alongside SNRPN methylation analysis for PWS diagnosis.
  • This research deepens the understanding of PWS etiology and highlights the importance of specific gene clusters in complex disorders.

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