Cited by 336Genetic Syndromes and ImprintingGenomic variations and chromosomal abnormalitiesGenomics and Chromatin Dynamics

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Prader–Willi syndrome and Angelman syndrome

Buiting, Karin·2010·American Journal of Medical Genetics Part C: Seminars in Medical Genetics

DOI 10.1002/ajmg.c.30273

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Abstract

Prader–Willi syndrome (PWS) and Angelman syndrome (AS) are two distinct neurogenetic disorders in which imprinted genes on the proximal long arm of chromosome 15 are affected. Although the SNORD116 gene cluster has become a prime candidate for PWS, it cannot be excluded that other paternally expressed genes in the chromosomal region 15q11q13 contribute to the full phenotype. AS is caused by a deficiency of the UBE3A gene, which in the brain is expressed from the maternal allele only. The most frequent genetic lesions in both disorders are a de novo deletion of the chromosomal region 15q11q13, uniparental disomy 15, an imprinting defect or, in the case of AS, a mutation of the UBE3A gene. Microdeletions in a small number of patients with PWS and AS have led to the identification of the chromosome 15 imprinting center (IC). The IC consists of two critical elements, which act in cis to regulate imprinting in the whole chromosome 15q11q13 imprinted domain. © 2010 Wiley‐Liss, Inc.

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Authors: Buiting, K.
Affiliations: Essen University Hospital (DE)
Corresponding author: Buiting, Karin
Venue: American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Publisher: Wiley
Published: 2010-08-15
Volume: 154C
Issue: 3
Pages: 365-376
ISSN: 1552-4868 (ISSN-L)
1552-4876
DOI: 10.1002/ajmg.c.30273
OpenAlex: W1982946759
Cited by: 336
References: 111
Citations by year: 2026: 4 · 2025: 7 · 2024: 11 · 2023: 14 · 2022: 18 · 2021: 26 · 2020: 17 · 2019: 25 · 2018: 18 · 2017: 27 · 2016: 17 · 2015: 19 · 2014: 37 · 2013: 33 · 2012: 38
FWCI: 3.24
Type: journal article
Language: en
Open access: closed
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor, 5 d)
Locations: American Journal of Medical Genetics Part C Seminars in Medical Genetics (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
Keywords: Prader-Willi syndrome, Angelman syndrome, genomic imprinting, uniparental disomy 15, imprinting center, microdeletion, neurogenetic disorders
MeSH terms: Chromosome Deletion, Chromosomes, Human, Pair 15, Multigene Family, Humans, Prader-Willi Syndrome, Gene Expression, Angelman Syndrome, Genomic Imprinting, Uniparental Disomy, Ubiquitin-Protein Ligases

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Prader–Willi syndrome and Angelman syndrome

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