Many women and men experience bloating very often and it is a very uncomfortable feeling, but it also means a more serious condition. The main cause of bloating is poor digestion.Read more
HOUSTON As so many genome studies do, this study published online in the journal Nature Genetics began with a single patient and his parents who were in search of a diagnosis.
The parents of this first patient sought genetic testing for Prader-Willi syndrome when he was only a year old, but the test, which was still in its infancy, came back negative. For the next 12 years, his parents were left in limbo. He had many features of the disease – including lack of muscle tone, feeding difficulties and failure to thrive early on. Autism spectrum disorder and mild intellectual disability became evident as he grew older.
Prader-Willi syndrome is an imprinted disease, which means only one of the two copies of the gene inherited from your parents is working. The other is “silenced,” usually during the formation of eggs or sperm. In this case, neither parent had a mutation, meaning that the mutation occurred first in this child.