Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes

Louisa Kalsner; Stormy J Chamberlain

doi:10.1016/j.pcl.2015.03.004

Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes

Pediatr Clin North Am. 2015 Jun;62(3):587-606. doi: 10.1016/j.pcl.2015.03.004. Epub 2015 Apr 22.

Authors

Louisa Kalsner¹, Stormy J Chamberlain²

Affiliations

¹ Department of Pediatrics, Connecticut Children's Medical Center, University of Connecticut School of Medicine, 505 Farmington Avenue, Farmington, CT 06032, USA; Department of Neurology, Connecticut Children's Medical Center, University of Connecticut School of Medicine, 505 Farmington Avenue, Farmington, CT 06032, USA. Electronic address: Lkalsner@connecticutchildrens.org.
² Department of Pediatrics, Connecticut Children's Medical Center, University of Connecticut School of Medicine, 505 Farmington Avenue, Farmington, CT 06032, USA; Departments of Genetics and Genome Sciences and Pediatrics, Connecticut Children's Medical Center, University of Connecticut Health Center, 400 Farmington Avenue, Farmington, CT 06030-6403, USA. Electronic address: chamberlain@uchc.edu.

Abstract

Three distinct neurodevelopmental disorders arise primarily from deletions or duplications that occur at the 15q11-q13 locus: Prader-Willi syndrome, Angelman syndrome, and 15q11-q13 duplication syndrome. Each of these disorders results from the loss of function or overexpression of at least 1 imprinted gene. This article discusses the clinical background, genetic cause, diagnostic strategy, and management of each of these 3 disorders.

Keywords: Angelman syndrome; Chromosome 15q11-q13 duplication; Copy number variation; DNA methylation; Genomic imprinting; Prader-Willi syndrome; SNRPN; UBE3A.

Publication types

Review

MeSH terms

Angelman Syndrome / genetics*
Child
Chromosome Aberrations
Chromosomes, Human, Pair 15 / genetics
DNA Methylation
Epigenesis, Genetic
Gene Dosage
Gene Duplication
Gene Expression
Humans
Intellectual Disability / genetics*
Prader-Willi Syndrome / genetics*

Supplementary concepts

Duplication 15q11-q13 Syndrome

Grants and funding

R01 HD068730/HD/NICHD NIH HHS/United States