ArticleJournal of medical genetics2006
Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations.
Article in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 1 of them a synthesis that pooled it.
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Who cites it
40 citing papers in PubMed, 1 synthesis or guideline pooled it, 94 citations in OpenAlex.
- Parent-reported outcome measures evaluating communication in individuals with rare neurodevelopmental disorders: A systematic review.International journal of language & communication disordersPooled it
- Emerging Therapies for Angelman Syndrome.CNS drugs · 2026Review
- Autism Spectrum Disorder Symptom Profiles in Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex and Neurofibromatosis Type 1.Journal of autism and developmental disorders · 2026Article
- Age-Related Trajectories of Autistic Traits in Children With Angelman Syndrome.Autism research : official journal of the International Society for Autism Research · 2025Article
- Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III.Journal of autism and developmental disorders · 2023Article
- Laryngotracheal separation surgery in a patient with severe Angelman syndrome involving a 19.3 Mb deletion on 15q11.2-q14.Clinical case reports · 2022Article
- Distinct sequence features underlie microdeletions and gross deletions in the human genome.Human mutation · 2022Article
- Autism Symptoms in Children and Young Adults With Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, and Neurofibromatosis Type 1: A Cross-Syndrome Comparison.Frontiers in psychiatry · 2022Article
- Epilepsy and Molecular Phenotype Affect the Neurodevelopment of Pediatric Angelman Syndrome Patients in China.Frontiers in psychiatry · 2022Article
- Review
- Case Report: An Atypical Angelman Syndrome Case With Obesity and Fulfilled Autism Spectrum Disorder Identified by Microarray.Frontiers in genetics · 2021Article
- Cyfip1 Regulates SynGAP1 at Hippocampal Synapses.Frontiers in synaptic neuroscience · 2020Article
- Novel West syndrome candidate genes in a Chinese cohort.CNS neuroscience & therapeutics · 2018Article
- Unmet clinical needs and burden in Angelman syndrome: a review of the literature.Orphanet journal of rare diseases · 2017Review
- Angelman syndrome - insights into a rare neurogenetic disorder.Nature reviews. Neurology · 2016Review
- Cyfip1 Regulates Presynaptic Activity during Development.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2016Article
- Article
- Parental origin impairment of synaptic functions and behaviors in cytoplasmic FMRP interacting protein 1 (Cyfip1) deficient mice.Brain research · 2015Article
- Review
- Angelman Syndrome.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2015Review
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAngelman syndrome (AS) is a neurodevelopmental disorder characterised by severe mental retardation, dysmorphic features, ataxia, seizures, and typical behavioural characteristics, including a happy sociable disposition. AS is caused by maternal deficiency of UBE3A (E6 associated protein ubiquitin protein ligase 3A gene), located in an imprinted region on chromosome 15q11-q13. Although there are four different molecular types of AS, deletions of the 15q11-q13 region account for approximately 70% of the AS patients. These deletions are usually detected by fluorescence in situ hybridisation studies. The deletions can also be subclassified based on their size into class I and class II, with the former being larger and encompassing the latter.
methodsWe studied 22 patients with AS due to microdeletions using a microarray based comparative genomic hybridisation (array CGH) assay to define the deletions and analysed their phenotypic severity, especially expression of the autism phenotype, in order to establish clinical correlations.
resultsOverall, children with larger, class I deletions were significantly more likely to meet criteria for autism, had lower cognitive scores, and lower expressive language scores compared with children with smaller, class II deletions. Children with class I deletions also required more medications to control their seizures than did those in the class II group.
conclusionsThere are four known genes (NIPA1, NIPA2, CYFIP1, & GCP5) that are affected by class I but not class II deletions, thus raising the possibility of a role for these genes in autism as well as the development of expressive language skills.
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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.