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Cited by 687Genetic Syndromes and ImprintingGenomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Angelman syndrome: a review of the clinical and genetic aspects

Open access
Clayton-Smith, J, Laan, L·2003·Journal of Medical Genetics
DOI 10.1136/jmg.40.2.87PMC PMC1735357
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Abstract

Angelman syndrome (AS) is a neurodevelopmental disorder characterised by severe learning difficulties, ataxia, a seizure disorder with a characteristic EEG, subtle dysmorphic facial features, and a happy, sociable disposition. Most children present with delay in developmental milestones and slowing of head growth during the first year of life. In the majority of cases speech does not develop. Patients with AS have a characteristic behavioural phenotype with jerky movements, frequent and sometimes inappropriate laughter, a love of water, and sleep disorder. The facial features are subtle and include a wide, smiling mouth, prominent chin, and deep set eyes. It is caused by a variety of genetic abnormalities involving the chromosome 15q11-13 region, which is subject to genomic imprinting. These include maternal deletion, paternal uniparental disomy, imprinting defects, and point mutations or small deletions within the UBE3A gene, which lies within this region. UBE3A shows tissue specific imprinting, being expressed exclusively from the maternal allele in brain. The genetic mechanisms identified so far in AS are found in 85-90% of those with the clinical phenotype and all interfere with UBE3A expression.

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  • Enhanced ERBB4 signaling has been implicated in Angelman syndrome, an autism spectrum disorder marked by behavioral traits such as increased desire for social interaction, developmental delay, severe speech impairment, and a happy demeanour.

    “Enhanced ERBB4 signaling has been implicated in Angelman syndrome, an autism spectrum disorder marked by behavioral traits such as increased desire for social interaction, developmental delay, severe speech impairment, and a happy demeanour, although aggressive behavior has sometimes been reported [83–85].”

    From Self-domestication in Homo sapiens: Insights from comparative genomics (2017) · cites this paper as [83]

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Research works printed but not linked: 14

  1. Buckley RH, Dinno N, Weber P. Angelman syndrome: are the estimates too low? Am J Med Genet 1998;80:385-90.
  2. Sandanam T, Beange H, Robson L, Woolnough H, Buchholz T, Smith A. Manifestations in institutionalised adults with Angelman syndrome due to deletion. Am J Med Genet 1997;70:415-20.
  3. Tonk V, Schultz RA, Christian SL, Kubota T, Ledbetter DH, Wilson GN. Robertsonian (15q;15q) translocation in a child with Angelman syndrome: evidence of uniparental disomy. Am J Med Genet 1996;66:426-8.
  4. Miura K, Kishino T, Li E, Webber H, Dikkes P, Holmes GL, Wagstaff J. Neurobehavioural and electroencephalographic abnormalities in Ube3a maternal-deficient mice. Neurobiol Dis 2002;9:149-59.
  5. Repetto GM, White LM, Bader PJ, Johnson D, Knoll JH. Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization. Am J Med Genet 1998;79:82-9.
  6. Van Buggenhout GJ, Pijkels E, Holvoet M, Schaap C, Hamel BC, Fryns JP. Cri du chat syndrome: changing phenotype in older patients. Am J Med Genet 2000;90:203-15.
  7. Battaglia A, Gurrieri F. Case of apparent Gurrieri syndrome showing molecular findings of Angelman syndrome. Am J Med Genet 1999;82:100.
  8. Arn PH, Williams CA, Zori RT, Driscoll DJ, Rosenblatt DS. Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome. Am J Med Genet 1998;77:198-200.
  9. Stalker HJ, Williams CA. Genetic counseling in Angelman syndrome: the challenges of multiple causes. Am J Med Genet 1998;77:54-9.
  10. Stalker HJ, Williams CA, Wagstaff J. Genetic counseling in Angelman syndrome: gonadal mosaicism. Am J Med Genet 1998;78:482.
  11. Burger J, Kunze J, Sperling K, Reis A. Phenotypic differences in Angelman syndrome patients: imprinting mutations show less frequently microcephaly and hypopigmentation than deletions. Am J Med Genet 1996;66:221-6.
  12. Laan LA, Halley DJ, den Boer AT, Hennekam RC, Renier WO, Brouwer OF. Angelman syndrome without detectable chromosome 15q11-13 anomaly: clinical study of familial and isolated cases. Am J Med Genet 1998;76:262-8.
  13. Tekin M, Jackson-Cook C, Buller A, Ferreira-Gonzalez A, Pandya A, Garrett CT, Bodurtha J. Fluorescence in situ hybridization detectable mosaicism for Angelman syndrome with biparental methylation. Am J Med Genet 2000;95:145-9.
  14. Riedel M. Manual medicine for patients with Angelman syndrome. Abstract, 1st World Conference of International Angelman Syndrome Association, Tampere, Finland, 2000.

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Authors
Clayton-Smith, J., & Laan, L.
Affiliations
Leiden University Medical Center (NL)
Venue
Journal of Medical Genetics
Publisher
BMJ
Published
2003-02
Volume
40
Issue
2
Pages
87-95
ISSN
  • 0022-2593 (ISSN-L)
  • 1468-6244
DOI
10.1136/jmg.40.2.87
PMC
PMC1735357
OpenAlex
W2135186193
Cited by
687
References
118
Citations by year
2026: 12 · 2025: 15 · 2024: 18 · 2023: 28 · 2022: 15 · 2021: 39 · 2020: 29 · 2019: 39 · 2018: 54 · 2017: 29 · 2016: 29 · 2015: 20 · 2014: 34 · 2013: 28 · 2012: 27
FWCI
2.72
Type
journal article
Language
en
Open access
Locations
  • Journal of Medical Genetics (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
  • Research Explorer (The University of Manchester) (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 › Genetics › Genetics and Neurodevelopmental Disorders
Keywords
Angelman syndrome, chromosome 15q11-13, genomic imprinting, UBE3A, paternal uniparental disomy, imprinting defects, neurodevelopmental disorders, ataxia, seizures, developmental delay, behavioral phenotypes, facial dysmorphism, sleep disorder
MeSH terms
Chromosome Deletion, Chromosomes, Human, Pair 15, Genetic Counseling, Genotype, Humans, Ligases, Mutation, Phenotype, Angelman Syndrome, Genomic Imprinting, Uniparental Disomy, Ubiquitin-Protein Ligases

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