Journal of Interdisciplinary Genomics

Interdisciplinary Society of Genetic & Genomic Medicine (유전의학융합회)
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Genetics of Prader-Willi Syndrome

  • Yoon, Ju Young (Department of Pediatrics, Pusan National University Children's Hospital)
  • Received : 2021.09.21
  • Accepted : 2021.10.25
  • Published : 2021.10.31
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Abstract

Prader-Willi syndrome (PWS) is a rare genetic disorder which lead to severe neurodevelopmental, endocrine, and metabolic impairment. PWS is genetic disorder related to genomic errors which lead to inactivation of paternally-inherited genes on chromosome 15q11-q13. Epigenetic mechanisms are also involved in PWS, and epigenetic therapies are under investigation. Here we provide review about genetics of PWS, focused on genes involved in pathophysiology of PWS. We will also summarize epigenetics and genetic counseling of PWS.

Keywords

Acknowledgement

This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors

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