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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

Molecular and Cellular Biochemistry Faculty Publications

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 …