Prader-Willi syndrome

Cassidy, Suzanne B.; Schwartz, Stuart; Miller, Jennifer L.; Driscoll, Daniel J.

doi:10.1038/gim.0b013e31822bead0

Cited by 1,452Genetic Syndromes and ImprintingGenomic variations and chromosomal abnormalitiesWilliams Syndrome Research

Prader-Willi syndrome

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Cassidy, Suzanne B., Schwartz, Stuart, Miller, Jennifer L., Driscoll, Daniel J.·2012·Genetics in Medicine

DOI 10.1038/gim.0b013e31822bead0

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Abstract

Prader-Willi syndrome is characterized by severe infantile hypotonia with poor suck and failure to thrive; hypogonadism causing genital hypoplasia and pubertal insufficiency; characteristic facial features; early-childhood onset obesity and hyperphagia; developmental delay/mild intellectual disability; short stature; and a distinctive behavioral phenotype. Sleep abnormalities and scoliosis are common. Growth hormone insufficiency is frequent, and replacement therapy provides improvement in growth, body composition, and physical attributes. Management is otherwise largely supportive. Consensus clinical diagnostic criteria exist, but diagnosis should be confirmed through genetic testing. Prader-Willi syndrome is due to absence of paternally expressed imprinted genes at 15q11.2-q13 through paternal deletion of this region (65-75% of individuals), maternal uniparental disomy 15 (20-30%), or an imprinting defect (1-3%). Parent-specific DNA methylation analysis will detect >99% of individuals. However, additional genetic studies are necessary to identify the molecular class. There are multiple imprinted genes in this region, the loss of which contribute to the complete phenotype of Prader-Willi syndrome. However, absence of a small nucleolar organizing RNA gene, SNORD116, seems to reproduce many of the clinical features. Sibling recurrence risk is typically <1%, but higher risks may pertain in certain cases. Prenatal diagnosis is available.

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Paternal-specific deletion of multiple imprinted, paternally expressed genes on the 15q11-q13 region results in Prader-Willi syndrome.
“Similarly, paternal-specific deletion of multiple imprinted, paternally expressed genes on the 15q11–q13 region results in Prader–Willi syndrome, whereas maternal deletion of a single, imprinted, maternally expressed gene encoding a ubiquitin-protein ligase (UBE3A) on this same region gives rise to the Angelman syndrome phenotype.”
From Geneâ€‰Ã—â€‰Environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms (2014) · cites this paper as [198]

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Self-citation
Klinefelter’s Syndrome and Prader-Willi Syndrome: A Rare Combination
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Methylation analysis at three different loci within the imprinted region of chromosome 15q11–13
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Dos hermanos con síndrome de Prader-Willy por deleción clásica. ¿Es la excepción que confirma la regla?
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Mothers and Fathers of Children With Down Syndrome: Parental Stress and Involvement in Childcare
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Self-citation

Authors: Cassidy, S. B., Schwartz, S., Miller, J. L., & Driscoll, D. J.
Affiliations: University of California, San Francisco (US)
University of Florida Health (US)
University of Florida (US)
Corresponding author: Cassidy, Suzanne B.
ORCID: Schwartz, Stuart
Miller, Jennifer L.
Driscoll, Daniel J.
Venue: Genetics in Medicine
Publisher: Elsevier BV
Published: 2012-01
Volume: 14
Issue: 1
Pages: 10-26
ISSN: 1098-3600 (ISSN-L)
DOI: 10.1038/gim.0b013e31822bead0
OpenAlex: W1980782305
Cited by: 1,452
References: 164
Citations by year: 2026: 61 · 2025: 86 · 2024: 119 · 2023: 112 · 2022: 121 · 2021: 111 · 2020: 119 · 2019: 112 · 2018: 105 · 2017: 95 · 2016: 102 · 2015: 80 · 2014: 90 · 2013: 72 · 2012: 37
FWCI: 10.95
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 3671 d)
Locations: Genetics in Medicine (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 › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
Keywords: Prader-Willi syndrome, genomic imprinting, paternal deletion, uniparental disomy 15, imprinting defects, SNORD116, growth hormone deficiency, growth hormone replacement therapy, hypogonadism, childhood obesity, hyperphagia, intellectual disability, sleep abnormalities, scoliosis, prenatal diagnosis, recurrence risk, genetic testing
MeSH terms: Diagnosis, Differential, Genetic Counseling, Genetic Testing, Humans, Morbidity, Prader-Willi Syndrome, Genetic Association Studies

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