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Prader–Willi syndrome (PWS) is a rare genetic disorder caused by a loss of function of specific genes on chromosome 15. [2] In newborns, symptoms include weak muscles, poor feeding, and slow development. [2] Beginning in childhood, those affected become constantly hungry, which often leads to obesity and type 2 diabetes. [2]
Region 15q11-13 is implicated in both Angelman syndrome and Prader–Willi syndrome (PWS). While AS results from mutation, loss or abnormal imprinting involving the UBE3A gene within this region on the maternal chromosome, [16] loss of a different cluster of genes within the same region on the paternal chromosome causes PWS. [18]
"Angelman syndrome shares symptoms and characteristics with other disorders including autism, cerebral palsy and Prader-Willi syndrome," read the Angelman Syndrome Foundation website. "People with ...
English: What is Prader-Willi syndrome? Prader-Willi syndrome is a genetic imprinting disorder affecting chromosome 15, which causes a variety of symptoms including overeating and obesity. Prader-Willi syndrome is a genetic imprinting disorder affecting chromosome 15, which causes a variety of symptoms including overeating and obesity.
Prader–Willi (PWS) and Angelman syndrome (AS) are distinct neurogenetic disorders caused by chromosomal deletions, uniparental disomy or loss of the imprinted gene expression in the 15q11-q13 region. Whether an individual exhibits PWS or AS depends on if there is a lack of the paternally expressed gene to contribute to the region.
Syndromic obesity (SO) refers to obesity when it occurs as part of a syndrome, often along with intellectual disability. Often syndromic obesity is mediated by abnormal development of the hypothalamus (see hypothalamic obesity). Known types of syndromic obesity include some types of monogenic obesity and: [1] [2] Prader Willi syndrome; Bardet ...
The sister syndrome Prader-Willi syndrome (PWS) can result if the father's copy of the chromosomal region 15q11-13 is deleted. [2] The smallest observed region that can result in these syndromes when deleted is therefore called the PWS/AS critical region .
Mutations within the UBE3A gene are responsible for some cases of Angelman syndrome and Prader-Willi syndrome.Most of these mutations result in an abnormally short, nonfunctional version of ubiquitin protein ligase E3A.