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- E-ISSN2671-6771
E-ISSN : 2671-6771
Genetics of Prader-Willi Syndrome
Journal of Interdisciplinary Genomics / Journal of Interdisciplinary Genomics, (E)2671-6771
2021, v.3 no.2, pp.35-40
https://doi.org/10.22742/JIG.2021.3.2.35
Ju Young Yoon
(Department of Pediatrics, Pusan National University Children’s Hospital, Yangsan, Korea)
Yoon,
J.
Y.
(2021). Genetics of Prader-Willi Syndrome. Journal of Interdisciplinary Genomics, 3(2), 35-40, https://doi.org/10.22742/JIG.2021.3.2.35
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
- Prader-Willi Syndrome, Genetics, Phenotypes
- Submission Date
- 2021-09-21
- Revised Date
- 2021-10-22
- Accepted Date
- 2021-10-25
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