AI Article Synopsis
- Angelman syndrome (AS) arises from the loss of the maternal UBE3A gene, and about 5% of cases are linked to paternal uniparental disomy of chromosome 15 (UPD(15)pat), mainly from monosomy rescue.
- A six-year-old patient with AS showed unique symptoms and underwent DNA methylation screening, revealing a paternal and a faint maternal band, indicating mosaic status.
- Further analysis confirmed a significant amount of UPD(15)pat cells and suggested mitotic nondisjunction as the likely cause of UPD(15)pat in this patient, potentially explaining similar cases in others with AS.
Article Abstract
Angelman syndrome (AS) is caused by the functional absence of the maternal ubiquitin-protein ligase E3A (UBE3A) gene. Approximately 5% of AS is caused by paternal uniparental disomy of chromosome 15 (UPD(15)pat), most of which is considered to result from monosomy rescue. However, little attention has focused on how UPD(15)pat occurs. We suggest the mitotic nondisjunction mechanism as a cause of UPD(15)pat in a six-year-old patient presenting with distinctive characteristics in line with AS. DNA methylation screening of 15q11-q13 showed a paternal band and a faint maternal band, suggestive of mosaic status. By trio-based microsatellite analysis, we confirmed a large proportion of UPD(15)pat cells and a small proportion of cells of biparental origin. Single nucleotide polymorphism (SNP) microarray revealed isodisomy of the entire chromosome 15. These results suggest that the UPD(15)pat of the patient resulted from mitotic nondisjunction, which may also be the cause of other cases of AS with UPD(15)pat.
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| http://dx.doi.org/10.1038/s10038-022-01088-z | DOI Listing |
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