Abstract
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.
Document Type
Article
Publication Date
5-5-2013
Digital Object Identifier (DOI)
http://dx.doi.org/10.4137/CCRep.S11510
Repository Citation
Falaleeva, Marina; Sulsona, Carlos R.; Zielke, Horst R.; Currey, Kathleen M.; de la Grange, Pierre; Aslanzadeh, Vahid; Driscoll, Daniel J.; and Stamm, Stefan, "Molecular Characterization of a Patient Presumed to Have Prader-Willi Syndrome" (2013). Molecular and Cellular Biochemistry Faculty Publications. 35.
https://uknowledge.uky.edu/biochem_facpub/35
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Supplemental Figure 2 - 11510.xlsx (4601 kB)
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Notes/Citation Information
Published in Clinical Medicine Insights: Case Reports, v. 6, p. 79-86.
© the author(s), publisher and licensee Libertas Academica Ltd. This is an open access article published under the Creative Commons CC-BY-NC 3.0 license.