ArticleJournal of medical genetics2001
Distinct phenotypes distinguish the molecular classes of Angelman syndrome.
Article in Journal of medical genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 131 papers.
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Who cites it
131 citing papers in PubMed, 363 citations in OpenAlex.
- Delta power robustly predicts cognitive function in Angelman syndrome.Annals of clinical and translational neurology · 2021Trial
- Mechanisms underlying the EEG biomarker in Dup15q syndrome.Molecular autism · 2019Trial
- A randomized placebo controlled clinical trial to evaluate the efficacy and safety of minocycline in patients with Angelman syndrome (A-MANECE study).Orphanet journal of rare diseases · 2018Trial
- A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome.American journal of medical genetics. Part A · 2011Trial
- Periodic and aperiodic contributions to EEG delta power are translatable and complementary Angelman syndrome biomarkers.Communications medicine · 2026Article
- Clinical Presentation, Genetics, and Laboratory Testing with Integrated Genetic Analysis of Molecular Mechanisms in Prader-Willi and Angelman Syndromes: A Review.International journal of molecular sciences · 2026Review
- Genetic medicines for epilepsy: unlocking new avenues for seizure control.Frontiers in bioengineering and biotechnology · 2026Review
- Genetic therapies for neurological diseases.Pharmacological reviews · 2026Review
- Molecular aspects of Angelman Syndrome: Defining the new path forward.Biomolecules & biomedicine · 2025Review
- Assessment of Dysphagia in Chinese Cohort of Angelman Syndrome: An Observational Study.CNS neuroscience & therapeutics · 2025Observational
- Age-Related Trajectories of Autistic Traits in Children With Angelman Syndrome.Autism research : official journal of the International Society for Autism Research · 2025Article
- Prenatal diagnosis of Prader-Willi syndrome via maternal UPD15 with placental mosaicism: incidental discovery of fetal DMD carrier status.Frontiers in genetics · 2025Article
- Exploring the Clinical and Genetic Landscape of Angelman Syndrome: Patient-Reported Insights from an Italian Registry.Journal of clinical medicine · 2024Article
- Developmental milestones and daily living skills in individuals with Angelman syndrome.Journal of neurodevelopmental disorders · 2024Article
- Expanding deep phenotypic spectrum associated with atypical pathogenic structural variations overlapping 15q11-q13 imprinting region.Brain and behavior · 2024Article
- Impact of Deletion on Angelman Syndrome Phenotype Variability: Phenotype-Genotype Correlation in 97 Patients with Motor Developmental Delay.Journal of pediatric genetics · 2024Article
- Outcome measures in Angelman syndrome.Journal of neurodevelopmental disorders · 2024Article
- Bone health in children with Angelman syndrome at the ENCORE Expertise Center.European journal of pediatrics · 2024Article
- Epigenetics in rare neurological diseases.Frontiers in cell and developmental biology · 2024Review
- UBE3A: The Role in Autism Spectrum Disorders (ASDs) and a Potential Candidate for Biomarker Studies and Designing Therapeutic Strategies.Diseases (Basel, Switzerland) · 2023Review
71 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundAngelman syndrome (AS) is a severe neurobehavioural disorder caused by defects in the maternally derived imprinted domain located on 15q11-q13. Most patients acquire AS by one of five mechanisms: (1) a large interstitial deletion of 15q11-q13; (2) paternal uniparental disomy (UPD) of chromosome 15; (3) an imprinting defect (ID); (4) a mutation in the E3 ubiquitin protein ligase gene (UBE3A); or (5) unidentified mechanism(s). All classical patients from these classes exhibit four cardinal features, including severe developmental delay and/or mental retardation, profound speech impairment, a movement and balance disorder, and AS specific behaviour typified by an easily excitable personality with an inappropriately happy affect. In addition, patients can display other characteristics, including microcephaly, hypopigmentation, and seizures.
methodsWe restricted the present study to 104 patients (93 families) with a classical AS phenotype. All of our patients were evaluated for 22 clinical variables including growth parameters, acquisition of motor skills, and history of seizures. In addition, molecular and cytogenetic analyses were used to assign a molecular class (I-V) to each patient for genotype-phenotype correlations.
resultsIn our patient repository, 22% of our families had normal DNA methylation analyses along 15q11-q13. Of these, 44% of sporadic patients had mutations within UBE3A, the largest percentage found to date. Our data indicate that the five molecular classes can be divided into four phenotypic groups: deletions, UPD and ID patients, UBE3A mutation patients, and subjects with unknown aetiology. Deletion patients are the most severely affected, while UPD and ID patients are the least. Differences in body mass index, head circumference, and seizure activity are the most pronounced among the classes.
conclusionsClinically, we were unable to distinguish between UPD and ID patients, suggesting that 15q11-q13 contains the only significant maternally expressed imprinted genes on chromosome 15.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.