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

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

Louisa Kalsner  1 , Stormy J Chamberlain  2
Affiliations
Review

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

Louisa Kalsner et al. Pediatr Clin North Am. 2015 Jun.

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.

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Figures

Figure 1
Figure 1. Map of 15q11-q13 region
Individual genes are depicted as boxes with their respective names above them. Genes shown in blue and red are imprinted and expressed from the paternal and maternal allelles, respectively. Black boxes mark the silenced allele. Gray boxes indicate genes expressed from both parental alleles. BP1-4 indicate the common breakpoints 1–4. PWS-IC indicates the Prader-Willi imprinting center. Cen and Tel mark the centromere and telomere, respectively to indicate orientation relative to the rest of the chromosome.
Figure 2
Figure 2. Diagnostic strategy for Prader-Willi syndrome
Blue boxes indicate the diagnostic test, pink boxes indicate the diagnosic decision.
Figure 3
Figure 3. Diagnostic strategy for Angelman syndrome
Blue boxes indicate the diagnostic test, pink boxes indicate the diagnosic decision.
See this image and copyright information in PMC

References

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Supplementary concepts