Angelman Syndrome Due to a Novel Splicing Mutation of theUBE3AGene
| Autor: | Stefano Sartori, Alberto Casarin, Paola Drigo, Irene Toldo, Laura Anesi, Alessandra Murgia, Roberta Polli |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities phenotype Developmental Disabilities Biology Polymorphism Single Nucleotide Genomic Imprinting Neurodevelopmental disorder Angelman syndrome Consensus Sequence medicine UBE3A Humans Point Mutation Language Development Disorders Allele Imprinting (psychology) Alleles Genetics Angelman syndrome mutation phenotype splice-site UBE3A Genetic Carrier Screening Point mutation Speech Intelligibility Infant nutritional and metabolic diseases medicine.disease Phenotype Introns splice-site nervous system diseases Child Preschool Pediatrics Perinatology and Child Health Female RNA Splice Sites Neurology (clinical) Chromosome Deletion mutation Genomic imprinting Follow-Up Studies |
| Zdroj: | Journal of Child Neurology. 23:912-915 |
| ISSN: | 1708-8283 0883-0738 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|