Molecular characterization of a patient presumed to have Prader-Willi syndrome

Marina Falaleeva, Carlos R. Sulsona, Horst R. Zielke, Kathleen M. Currey, Pierre de la Grange, Vahid Aslanzadeh, Daniel J. Driscoll, Stefan Stamm

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


Prader-Willi syndrome (PWS) is caused by the loss of RNA expression from an imprinted region on chromosome 15 that includes SNRPN, SNORD115, and SNORD116. Currently, there are no mouse models that faithfully reflect the human phenotype and investigations rely on human post-mortem material. During molecular characterization of tissue deposited in a public brain bank from a patient diagnosed with Prader-Willi syndrome, we found RNA expression from SNRPN, SNORD115, and SNORD116 which does not support a genetic diagnosis of Prader-Willi syndrome. The patient was a female, Caucasian nursing home resident with history of morbid obesity (BMI 56.3) and mental retardation. She died at age of 56 from pulmonary embolism. SNORD115 and SNORD116 are unexpectedly stable in post mortem tissue and can be used for post-mortem diagnosis. Molecular characterization of PWS tissue donors can confirm the diagnosis and identify those patients that have been misdiagnosed.

Original languageEnglish
Pages (from-to)79-86
Number of pages8
JournalClinical Medicine Insights: Case Reports
StatePublished - 2013


  • Gene expression
  • Genetic analysis
  • Obesity
  • Prader-Willi syndrome

ASJC Scopus subject areas

  • General Medicine


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