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Somatic Mosaicism as Modulator of the Global and Intellectual Phenotype in Epimutated Angelman Syndrome Patients
ISSN: 2292 - 2598
Publisher: author
Somatic Mosaicism as Modulator of the Global and Intellectual Phenotype in Epimutated Angelman Syndrome Patients
Indexed in
Medical Sciences
ARTICLE-FACTOR
1.3
Article Basics Score: 2
Article Transparency Score: 2
Article Operation Score: 2
Article Articles Score: 2
Article Accessibility Score: 2
SUBMIT PAPER ASK QUESTION
International Category Code (ICC):
ICC-1702
Publisher: Lifescience Global Inc.
International Journal Address (IAA):
IAA.ZONE/2292110282598
eISSN
:
2292 - 2598
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Abstract
Angelman Syndrome (AS) is due to the loss of function of the single UBE3A gene, mapping to chromosome 15q11-q13 and encoding the E6AP ubiquitin ligase. Expression of UBE3A is subject to genomic imprinting which is restricted to the brain, where only the maternal allele is transcribed. AS pathogenetic mechanisms include deletion of the maternal 15q11-13 chromosomal region, chromosome 15 paternal uniparental disomy (UPD), Imprinting Defects (ImpD) leading to silencing of the maternal allele and intragenic mutations of the maternal UBE3A allele. From our AS cohort we sorted out for detailed clinical-molecular characterization six mosaic cases, five with ImpD epimutations and one with patUPD15. This latter case referred for intellectual disability and fortuitously solved by SNP array, is, to our knowledge, the unique patient reported with mosaic patUPD of this imprinted region. Somatic epimutation mosaicism represents a challenge for both...
