A Review of Prader–Willi Syndrome

Prader–Willi Syndrome (PWS, OMIM #176270) is a rare complex genetic disorder due to the loss of expression of paternally derived genes in the PWS critical region on chromosome 15q11-q13. It affects multiple neuroendocrine systems and may present failure to thrive in infancy, but then, hyperphagia an...

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Bibliographic Details
Published in:Endocrines 2022-06, Vol.3 (2), p.329-348
Main Authors: Szabadi, Stephen, Sila, Zachary, Dewey, John, Rowland, Dustin, Penugonda, Madhuri, Ergun-Longmire, Berrin
Format: Article
Language:English
Subjects:
Chromosomes
Circadian rhythm
Epigenetics
Food
Genes
Genetic engineering
Genotype & phenotype
growth hormone
imprinting
Obesity
Patients
Prader–Willi syndrome
Puberty
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Summary:Prader–Willi Syndrome (PWS, OMIM #176270) is a rare complex genetic disorder due to the loss of expression of paternally derived genes in the PWS critical region on chromosome 15q11-q13. It affects multiple neuroendocrine systems and may present failure to thrive in infancy, but then, hyperphagia and morbid obesity starting in early childhood became the hallmark of this condition. Short stature, hypogonadism, sleep abnormalities, intellectual disability, and behavioral disturbances highlight the main features of this syndrome. There have been a significant number of advances in our understanding of the genetic mechanisms underlying the disease, especially discoveries of MAGEL2, NDN, MKRN3, and SNORD116 genes in the pathophysiology of PWS. However, early diagnosis and difficulty in treating some of the disease’s most disabling features remain challenging. As our understanding of PWS continues to grow, so does the availability of new therapies and management strategies available to clinicians and families.
ISSN:2673-396X
2673-396X
DOI:10.3390/endocrines3020027