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...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-06-01
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| Series: | Endocrines |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2673-396X/3/2/27 |
| _version_ | 1827660632896307200 |
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| author | Stephen Szabadi Zachary Sila John Dewey Dustin Rowland Madhuri Penugonda Berrin Ergun-Longmire |
| author_facet | Stephen Szabadi Zachary Sila John Dewey Dustin Rowland Madhuri Penugonda Berrin Ergun-Longmire |
| author_sort | Stephen Szabadi |
| collection | DOAJ |
| description | 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 <i>MAGEL2</i>, <i>NDN</i>, <i>MKRN3</i>, and <i>SNORD116</i> 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. |
| first_indexed | 2024-03-09T23:55:16Z |
| format | Article |
| id | doaj.art-3733d45ab9604513be6841d1800ac0df |
| institution | Directory Open Access Journal |
| issn | 2673-396X |
| language | English |
| last_indexed | 2024-03-09T23:55:16Z |
| publishDate | 2022-06-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Endocrines |
| spelling | doaj.art-3733d45ab9604513be6841d1800ac0df2023-11-23T16:26:50ZengMDPI AGEndocrines2673-396X2022-06-013232934810.3390/endocrines3020027A Review of Prader–Willi SyndromeStephen Szabadi0Zachary Sila1John Dewey2Dustin Rowland3Madhuri Penugonda4Berrin Ergun-Longmire5Department of Pediatric and Adolescent Medicine, Western Michigan University Homer Stryker M.D. School of Medicine, Kalamazoo, MI 49008, USADepartment of Pediatric and Adolescent Medicine, Western Michigan University Homer Stryker M.D. School of Medicine, Kalamazoo, MI 49008, USADepartment of Pediatric and Adolescent Medicine, Western Michigan University Homer Stryker M.D. School of Medicine, Kalamazoo, MI 49008, USADepartment of Pediatric and Adolescent Medicine, Western Michigan University Homer Stryker M.D. School of Medicine, Kalamazoo, MI 49008, USAPediatric Pulmonology Medicine, University of Florida, Pensacola, FL 32504, USADepartment of Pediatric and Adolescent Medicine, Western Michigan University Homer Stryker M.D. School of Medicine, Kalamazoo, MI 49008, USAPrader–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 <i>MAGEL2</i>, <i>NDN</i>, <i>MKRN3</i>, and <i>SNORD116</i> 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.https://www.mdpi.com/2673-396X/3/2/27Prader–Willi syndromeimprintingobesitygrowth hormone |
| spellingShingle | Stephen Szabadi Zachary Sila John Dewey Dustin Rowland Madhuri Penugonda Berrin Ergun-Longmire A Review of Prader–Willi Syndrome Endocrines Prader–Willi syndrome imprinting obesity growth hormone |
| title | A Review of Prader–Willi Syndrome |
| title_full | A Review of Prader–Willi Syndrome |
| title_fullStr | A Review of Prader–Willi Syndrome |
| title_full_unstemmed | A Review of Prader–Willi Syndrome |
| title_short | A Review of Prader–Willi Syndrome |
| title_sort | review of prader willi syndrome |
| topic | Prader–Willi syndrome imprinting obesity growth hormone |
| url | https://www.mdpi.com/2673-396X/3/2/27 |
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