What Are the Causes of Prader-Willi Syndrome?
Prader-Willi syndrome occurs when genes are completely or partially missing in a certain region of chromosome 15. The missing genes usually affect the hypothalamus in your brain, leading to issues with development, appetite, and hormones. In most cases, people with Prader-Willi syndrome do not inherit it. Instead, the gender change or mutate may occur due to other factors.
In 60% of people with Prader-Willi syndrome, the copy of chromosome 15 from the father during conception mutates. It may either get deleted or altered. Studies show that 35% of people with PWS, two copies of chromosome 15 are inherited from the mother during fertilization and no chromosome from the father.
In less than 5% of people with PWS, the paternal (male) copy of chromosome 15 is completely together, but the genes in the Prader-Willi region do not function properly.
Translocation may occur in people with Prader-Willi. The genes on chromosome 15 from the father may become mixed up with genes from other chromosomes.