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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UBE3A/E6-AP mutations cause Angelman syndrome
Kishino, T., Lalande, M., & Wagstaff, J. E. (1997) · Nature Genetics · doi:10.1038/ng0197-70 · Cited by 1,304
Prader-Willi Syndrome: Consensus Diagnostic Criteria
Holm, V. A., Cassidy, S. B., Butler, M. G., Hanchett, J. M., Greenswag, L. R., Whitman, B. Y., & Greenberg, F. (1993) · Pediatrics · doi:10.1542/peds.91.2.398 · Cited by 1,278
Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome
Nicholls, R. D., Knoll, J. H. M., Butler, M. G., Karam, S., & Lalande, M. (1989) · Nature · doi:10.1038/342281a0 · Cited by 878
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
Matsuura, T., Sutcliffe, J. S., Fang, P., Galjaard, R. H., Jiang, Y., Benton, C. S., Rommens, J. M., & Beaudet, A. L. (1997) · Nature Genetics · doi:10.1038/ng0197-74 · Cited by 858
The snoRNA HBII-52 Regulates Alternative Splicing of the Serotonin Receptor 2C
Kishore, S., & Stamm, S. (2005) · Science · doi:10.1126/science.1118265 · Cited by 699
Angelman syndrome: a review of the clinical and genetic aspects
Clayton-Smith, J., & Laan, L. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.2.87 · Cited by 687
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster
Sahoo, T., del Gaudio, D., German, J. R., Shinawi, M. S., Peters, S. U., Person, R., Garnica, A. D., Cheung, S. W., & Beaudet, A. L. (2008) · Nature Genetics · doi:10.1038/ng.158 · Cited by 672
Angelman syndrome 2005: Updated consensus for diagnostic criteria
Williams, C. A., Beaudet, A. L., Clayton‐Smith, J., Knoll, J. H. M., Kyllerman, M., Laan, L., Magenis, R. E., Moncla, A., Schinzel, A., Summers, J., et al. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31074 · Cited by 626
Deletions of Chromosome 15 as a Cause of the Prader–Willi Syndrome
Ledbetter, D. H., Riccardi, V. M., Airhart, S. D., Strobel, R. J., Keenan, B. S., & Crawford, J. D. (1981) · New England Journal of Medicine · doi:10.1056/nejm198102053040604 · Cited by 622
Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization
Cavaillé, J., Buiting, K., Kiefmann, M., Lalande, M., Brannan, C. I., Horsthemke, B., Bachellerie, J.-P., Brosius, J., & Hüttenhofer, A. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.250426397 · Cited by 601
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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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