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E-ISSN : 2671-6771

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Vol.3 No.2

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Genetics of Prader-Willi Syndrome

유전의학융합학술지 / 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). . 유전의학융합학술지, 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
투고일Submission Date
2021-09-21
수정일Revised Date
2021-10-22
게재확정일Accepted Date
2021-10-25

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