Document Detail

Angelman syndrome due to a novel splicing mutation of the UBE3A gene.
MedLine Citation:
PMID:  18487518     Owner:  NLM     Status:  MEDLINE    
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.
Stefano Sartori; Laura Anesi; Roberta Polli; Irene Toldo; Alberto Casarin; Paola Drigo; Alessandra Murgia
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2008-05-16
Journal Detail:
Title:  Journal of child neurology     Volume:  23     ISSN:  1708-8283     ISO Abbreviation:  J. Child Neurol.     Publication Date:  2008 Aug 
Date Detail:
Created Date:  2008-07-28     Completed Date:  2008-10-17     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8606714     Medline TA:  J Child Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  912-5     Citation Subset:  IM    
Pediatric Neurology Unit, University of Padua, Padova, Italy.
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MeSH Terms
Angelman Syndrome / diagnosis,  genetics*
Child, Preschool
Chromosome Deletion
Consensus Sequence / genetics
Developmental Disabilities / diagnosis,  genetics
Follow-Up Studies
Genomic Imprinting / genetics
Heterozygote Detection
Introns / genetics
Language Development Disorders / diagnosis,  genetics
Mutation / genetics*
Point Mutation / genetics
Polymorphism, Single Nucleotide / genetics
RNA Splice Sites / genetics*
Speech Intelligibility
Reg. No./Substance:
0/RNA Splice Sites

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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