Prader-Willi and Angelman Syndromes: Mechanisms and Management

Van K Ma; Rong Mao; Jessica N Toth; Makenzie L Fulmer; Alena S Egense; Suma P Shankar

doi:10.2147/TACG.S372708

Prader-Willi and Angelman Syndromes: Mechanisms and Management

Appl Clin Genet. 2023 Apr 6:16:41-52. doi: 10.2147/TACG.S372708. eCollection 2023.

Authors

Van K Ma^{1

2}, Rong Mao^{3

4}, Jessica N Toth³, Makenzie L Fulmer^{3

4}, Alena S Egense^{1

2}, Suma P Shankar^{1

2

5}

Affiliations

¹ Department of Pediatrics, University of California Davis, Sacramento, CA, USA.
² MIND Institute, University of California Davis, Sacramento, CA, USA.
³ Molecular Genetics and Genomics, ARUP Laboratories, Salt Lake City, UT, USA.
⁴ Department of Pathology, University of Utah, Salt Lake City, UT, USA.
⁵ Department of Ophthalmology, University of California Davis, Sacramento, CA, USA.

Abstract

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: chromosome 15; developmental delay; hyperphagia; imprinting disorders; obesity; uniparental disomy.

Publication types

Review