Angelman syndrome (AS, MIM 105830)

Buggenhout, Griet Van; Fryns, Jean‐Pierre

doi:10.1038/ejhg.2009.67

Cited by 90 publications

(64 citation statements)

References 41 publications

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“…More cases were described as "Happy Puppet" syndrome (Bower and Jeavons, 1967), and additional consensus diagnostic criteria for what is now recognized as Angelman syndrome (AS) include microcephaly, seizures, EEG abnormalities, and hyperactivity (Williams et al, 2006). The current understanding of the clinical characteristics of AS children and adults has been summarized previously (Clayton-Smith and Laan, 2003;Dan, 2009;Van Buggenhout and Fryns, 2009).…”

Section: Introductionmentioning

confidence: 99%

Angelman Syndrome, a Genomic Imprinting Disorder of the Brain

Chamberlain¹,

Lalande²

2010

J. Neurosci.

102

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Section: Introductionmentioning

confidence: 99%

Angelman Syndrome, a Genomic Imprinting Disorder of the Brain

Chamberlain¹,

Lalande²

2010

J. Neurosci.

102

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“…Dysmorphic features include microcephaly, macrostomia and prominence of the jaw. 2 PWS is characterised by global developmental delay, hypotonia and feeding difficulties with failure to thrive in infancy. There is rapid weight gain usually between the ages of 1 and 4 years.…”

Section: Introductionmentioning

confidence: 99%

An atypical case of hypomethylation at multiple imprinted loci

et al. 2011

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Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are caused by genetic and epigenetic mutations of the imprinted gene cluster on chromosome 15q13. Although the imprinting mutations causing PWS and AS are essentially opposite in nature, remarkably, a small number of patients have been reported with clinical features of PWS but epigenetic mutations consistent with AS. We report here a patient who presented with clinical features partially consistent with both PWS and Beckwith-Wiedemann syndrome (BWS). Epimutations were found at both the AS/PWS and BWS loci, and additionally at the H19, PEG3, NESPAS and GNAS loci. This patient is therefore the first described case with a primary epimutation consistent with AS accompanied by hypomethylation of other imprinted loci.

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“…Microcephaly and seizures are also common (3,4 ). Manifestation of the unique AS neurodevelopmental features becomes more evident after the first year of life.…”

Section: Introductionmentioning

confidence: 99%

“…In addition, his metabolic workup (acylcarnitine profile, serum amino acids, urine organic acids, and lactate) was unremarkable. Chromosomal microarray analysis (CMA) 3 was performed because the diagnostic yield with CMA is significantly higher than classic chromosome analysis and professional societies recommend it as the firsttier diagnostic test for patients with unexplained developmental delay/intellectual disabilities or congenital anomalies (1 ). CMA testing revealed a 5-Mb deletion on 15q11.2q13.1 between genomic coordinates 23,615,768 and 28,644,578 (hg19) (Fig.…”

Section: Case Descriptionmentioning

confidence: 99%