"About 15 years ago, an Amish family in the eastern US was hit by an unexplainable tragedy -- one of their children died suddenly while playing and running around. Just a few months later, the same fate befell another one of their children. Six years later, they lost another child. Two years after that, another one.
The team suspected that a gene called RYR2 could be the culprit -- mutations of the gene can cause a cardiac arrhythmic disorder that can lead to exercise-fainting spells, seizures or even sudden cardiac death. But when they analyzed the gene to check for mutations, nothing turned up.
Turns out, it was RYR2 -- the gene the researchers had suspected all along. But there wasn't just one mistake in the gene. More than 300,000 base pairs in the gene had been duplicated.
"We finally figured it out that it was an autosomal recessive condition where both bad duplications came from both parents, and those children were unfortunate to get the double dose," Michael Ackerman, director of the Windland Smith Rice Sudden Death Genomics Laboratory, told CNN.
To develop the duplication that causes sudden death, a child has to inherit a mutated gene from each parent -- the chances of which are 25 percent. That four children in one family inherited the mutation and died sudden deaths is incredibly unfortunate, Ackerman said. "
"The great pleasure in life is doing what people say you cannot do."