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- W3175353306 abstract "Angelman syndrome (AS) is a rare neurodevelopmental disease that is caused by the loss of function of the maternal copy of ubiquitin-protein ligase E3A (UBE3A) on the chromosome 15q11-13 region. AS is characterized by global developmental delay, severe intellectual disability, lack of speech, happy disposition, ataxia, epilepsy, and distinct behavioral profile. There are four molecular mechanisms of etiology: maternal deletion of chromosome 15q11-q13, paternal uniparental disomy of chromosome 15q11-q13, imprinting defects, and maternally inherited UBE3A mutations. Different genetic types may show different phenotypes in performance, seizure, behavior, sleep, and other aspects. AS caused by maternal deletion of 15q11-13 appears to have worse development, cognitive skills, albinism, ataxia, and more autistic features than those of other genotypes. Children with a UBE3A mutation have less severe phenotypes and a nearly normal development quotient. In this review, we proposed to review genotype-phenotype correlations based on different genotypes. Understanding the pathophysiology of the different genotypes and the genotype-phenotype correlations will offer an opportunity for individualized treatment and genetic counseling. Genotype-phenotype correlations based on larger data should be carried out for identifying new treatment modalities." @default.
- W3175353306 created "2021-07-05" @default.
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- W3175353306 date "2021-06-28" @default.
- W3175353306 modified "2023-10-03" @default.
- W3175353306 title "Genotype–Phenotype Correlations in Angelman Syndrome" @default.
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- W3175353306 doi "https://doi.org/10.3390/genes12070987" @default.
- W3175353306 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8304328" @default.
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- W3175353306 hasPublicationYear "2021" @default.
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