Prader-Willi and Angelman Syndromes: Mechanisms and Management

Abstract

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 [phone], Fax + 1 916 703 0203, Email [email protected]: 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

Keywords

• imprinting disorders
• uniparental disomy
• chromosome 15
• developmental delay
• hyperphagia
• obesity