ArticleMolecular genetics & genomic medicine2019
Preserved expressive language as a phenotypic determinant of Mosaic Angelman Syndrome.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 18 citations in OpenAlex.
- Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.Clinical epigenetics · 2024Review
- Article
- Typical and atypical neural mechanisms support spoken word processing in Angelman syndrome.Brain and language · 2023Article
- Atypical presentation of Angelman syndrome with intact expressive language due to low-level mosaicism.Molecular genetics & genomic medicine · 2022Article
- Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability.American journal of medical genetics. Part A · 2022Article
- Methylation analysis and developmental profile of two individuals with Angelman syndrome due to mosaic imprinting defects.European journal of medical genetics · 2022Article
- A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome.Molecular genetics & genomic medicine · 2022Review
- Epilepsy and Molecular Phenotype Affect the Neurodevelopment of Pediatric Angelman Syndrome Patients in China.Frontiers in psychiatry · 2022Article
- Communication-related assessments in an Angelman syndrome mouse model.Brain and behavior · 2021Article
- Imprinting disorders in humans: a review.Current opinion in pediatrics · 2020Review
- Chromosome 15 Imprinting Disorders: Genetic Laboratory Methodology and Approaches.Frontiers in pediatrics · 2020Review
- Prenatal treatment path for angelman syndrome and other neurodevelopmental disorders.Autism research : official journal of the International Society for Autism Research · 2020Review
- Preserved expressive language as a phenotypic determinant of Mosaic Angelman Syndrome.Molecular genetics & genomic medicine · 2019Article
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAngelman Syndrome (AS) is a neurodevelopmental disorder with core features of intellectual disability, speech impairment, movement disorders, and a unique behavioral profile. Typically, AS results from absent maternal expression of UBE3A, but some individuals have imprinting defects in a portion of their cells. These individuals are mosaic for normal and defective UBE3A expression, resulting in mosaic AS (mAS) with a partial loss of gene expression.
methodsThis study aims to contrast the mAS phenotype to that of AS. Clinical characteristics of mAS were obtained from a parental survey of 22 mAS patients and from the Angelman Natural History study. These were contrasted with those of AS using historical data.
resultsDevelopmental delay was present in nearly all mAS patients, whereas the core features of AS were reported in less than 40%. While language and ability to manage activities of daily living were markedly improved over that expected in AS, mAS patients demonstrated a high incidence of behavioral challenges.
conclusionClinical work-up of an individual with developmental delay, hyperactivity, anxiety, and an uncharacteristically happy demeanor should prompt methylation studies to rule out mAS. We expand the phenotypic spectrum of AS to include features that overlap with Prader-Willi such as hyperphagia.
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