Prader-Willi and Angelman Syndromes: Mechanisms and Management
Van K Ma,1,2 Rong Mao,3,4 Jessica N Toth,3 Makenzie L Fulmer,3,4 Alena S Egense,1,2 Suma P Shankar1,2,5 1Department of Pediatrics, University of California Davis, Sacramento, CA, USA; 2MIND Institute, University of California Davis, Sacramento, CA, USA; 3Molecular Genetics and Genomics, ARUP Laborat...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Dove Medical Press
2023-04-01
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| Series: | The Application of Clinical Genetics |
| Subjects: | |
| Online Access: | https://www.dovepress.com/prader-willi-and-angelman-syndromes-mechanisms-and-management-peer-reviewed-fulltext-article-TACG |
| _version_ | 1797848476604694528 |
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| author | Ma VK Mao R Toth JN Fulmer ML Egense AS Shankar SP |
| author_facet | Ma VK Mao R Toth JN Fulmer ML Egense AS Shankar SP |
| author_sort | Ma VK |
| collection | DOAJ |
| description | Van K Ma,1,2 Rong Mao,3,4 Jessica N Toth,3 Makenzie L Fulmer,3,4 Alena S Egense,1,2 Suma P Shankar1,2,5 1Department of Pediatrics, University of California Davis, Sacramento, CA, USA; 2MIND Institute, University of California Davis, Sacramento, CA, USA; 3Molecular Genetics and Genomics, ARUP Laboratories, Salt Lake City, UT, USA; 4Department of Pathology, University of Utah, Salt Lake City, UT, USA; 5Department of Ophthalmology, University of California Davis, Sacramento, CA, USACorrespondence: Suma P Shankar, MIND Institute, University of California Davis, 2825 50th Street, Sacramento, CA, 95817, USA, Tel +1 916 703 0235, Fax + 1 916 703 0203, Email Spshankar@ucdavis.eduAbstract: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are genetic imprinting disorders resulting from absent or reduced expression of paternal or maternal genes in chromosome 15q11q13 region, respectively. The most common etiology is deletion of the maternal or paternal 15q11q13 region. Methylation is the first line for molecular diagnostic testing; MS-MLPA is the most sensitive test. The molecular subtype of PWS/AS provides more accurate recurrence risk information for parents and for the individual affected with the condition. Management should include a multidisciplinary team by various medical subspecialists and therapists. Developmental and behavioral management of PWS and AS in infancy and early childhood includes early intervention services and individualized education programs for school-aged children. Here, we compare and discuss the mechanisms, pathophysiology, clinical features, and management of the two imprinting disorders, PWS and AS.Keywords: imprinting disorders, uniparental disomy, chromosome 15, developmental delay, hyperphagia, obesity |
| first_indexed | 2024-04-09T18:28:10Z |
| format | Article |
| id | doaj.art-e933fdffc725443788df53b5ac9f734a |
| institution | Directory Open Access Journal |
| issn | 1178-704X |
| language | English |
| last_indexed | 2024-04-09T18:28:10Z |
| publishDate | 2023-04-01 |
| publisher | Dove Medical Press |
| record_format | Article |
| series | The Application of Clinical Genetics |
| spelling | doaj.art-e933fdffc725443788df53b5ac9f734a2023-04-11T19:05:00ZengDove Medical PressThe Application of Clinical Genetics1178-704X2023-04-01Volume 16415282835Prader-Willi and Angelman Syndromes: Mechanisms and ManagementMa VKMao RToth JNFulmer MLEgense ASShankar SPVan K Ma,1,2 Rong Mao,3,4 Jessica N Toth,3 Makenzie L Fulmer,3,4 Alena S Egense,1,2 Suma P Shankar1,2,5 1Department of Pediatrics, University of California Davis, Sacramento, CA, USA; 2MIND Institute, University of California Davis, Sacramento, CA, USA; 3Molecular Genetics and Genomics, ARUP Laboratories, Salt Lake City, UT, USA; 4Department of Pathology, University of Utah, Salt Lake City, UT, USA; 5Department of Ophthalmology, University of California Davis, Sacramento, CA, USACorrespondence: Suma P Shankar, MIND Institute, University of California Davis, 2825 50th Street, Sacramento, CA, 95817, USA, Tel +1 916 703 0235, Fax + 1 916 703 0203, Email Spshankar@ucdavis.eduAbstract: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are genetic imprinting disorders resulting from absent or reduced expression of paternal or maternal genes in chromosome 15q11q13 region, respectively. The most common etiology is deletion of the maternal or paternal 15q11q13 region. Methylation is the first line for molecular diagnostic testing; MS-MLPA is the most sensitive test. The molecular subtype of PWS/AS provides more accurate recurrence risk information for parents and for the individual affected with the condition. Management should include a multidisciplinary team by various medical subspecialists and therapists. Developmental and behavioral management of PWS and AS in infancy and early childhood includes early intervention services and individualized education programs for school-aged children. Here, we compare and discuss the mechanisms, pathophysiology, clinical features, and management of the two imprinting disorders, PWS and AS.Keywords: imprinting disorders, uniparental disomy, chromosome 15, developmental delay, hyperphagia, obesityhttps://www.dovepress.com/prader-willi-and-angelman-syndromes-mechanisms-and-management-peer-reviewed-fulltext-article-TACGimprinting disordersuniparental disomychromosome 15developmental delayhyperphagiaobesity |
| spellingShingle | Ma VK Mao R Toth JN Fulmer ML Egense AS Shankar SP Prader-Willi and Angelman Syndromes: Mechanisms and Management The Application of Clinical Genetics imprinting disorders uniparental disomy chromosome 15 developmental delay hyperphagia obesity |
| title | Prader-Willi and Angelman Syndromes: Mechanisms and Management |
| title_full | Prader-Willi and Angelman Syndromes: Mechanisms and Management |
| title_fullStr | Prader-Willi and Angelman Syndromes: Mechanisms and Management |
| title_full_unstemmed | Prader-Willi and Angelman Syndromes: Mechanisms and Management |
| title_short | Prader-Willi and Angelman Syndromes: Mechanisms and Management |
| title_sort | prader willi and angelman syndromes mechanisms and management |
| topic | imprinting disorders uniparental disomy chromosome 15 developmental delay hyperphagia obesity |
| url | https://www.dovepress.com/prader-willi-and-angelman-syndromes-mechanisms-and-management-peer-reviewed-fulltext-article-TACG |
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