| Angelman syndrome due to a novel splicing mutation of the UBE3A gene. | |
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MedLine Citation:
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PMID: 18487518 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, absence of speech, seizures, abnormal electroencephalography (EEG), and happy disposition. The syndrome results from lack of function of the maternal copy of the UBE3A gene on the imprinted Prader-Willi/Angelman syndrome critical region; it is caused by large deletions, paternal uniparental disomy, imprinting center defects or UBE3A deletions, and point mutations. We found a novel splice-site mutation of the UBE3A gene in a child with clinical and EEG features of Angelman syndrome. This case further points out the fact that individuals with Angelman syndrome and mutations of the UBE3A gene have a phenotype that tends to be rather mild, however, undistinguishable, both from the clinical and the electrophysiological points of view, from the Angelman syndrome phenotype due to other known molecular mechanisms. |
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Authors:
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Stefano Sartori; Laura Anesi; Roberta Polli; Irene Toldo; Alberto Casarin; Paola Drigo; Alessandra Murgia |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2008-05-16 |
Journal Detail:
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Title: Journal of child neurology Volume: 23 ISSN: 1708-8283 ISO Abbreviation: J. Child Neurol. Publication Date: 2008 Aug |
Date Detail:
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Created Date: 2008-07-28 Completed Date: 2008-10-17 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8606714 Medline TA: J Child Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 912-5 Citation Subset: IM |
Affiliation:
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Pediatric Neurology Unit, University of Padua, Padova, Italy. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Alleles Angelman Syndrome / diagnosis, genetics* Child, Preschool Chromosome Deletion Consensus Sequence / genetics Developmental Disabilities / diagnosis, genetics Female Follow-Up Studies Genomic Imprinting / genetics Heterozygote Detection Humans Infant Introns / genetics Language Development Disorders / diagnosis, genetics Mutation / genetics* Phenotype Point Mutation / genetics Polymorphism, Single Nucleotide / genetics RNA Splice Sites / genetics* Speech Intelligibility |
| Chemical | |
Reg. No./Substance:
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0/RNA Splice Sites |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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