Will there ever be a definitive test for Sotos syndrome?
While we can not be sure, certainly as more and more research is being conducted we will learn more and more about genetics in general and Sotos in particular. Sotos syndrome, while rare, is common enough that there is interest in the research community to study it. But genetic research is a very slow process.
In April 2002, a group of Japanese researchers, headed by Dr. Kurotaki, published a report saying they believed they had found a gene associated with Sotos syndrome. The report was published in Nature Genetics 30:365-366, April 2002. While this is an exciting step forward in our knowledge about Sotos, much more research must be done before we can be sure it could be a reliable test for Sotos.
Another question that follows is whether this knowledge could somehow be used to improve the life of an individual with Sotos. At this time we just do not know. What we do know it that there are a number of very competent researchers in the world that are interested in Sotos research and that research is currently being conducted. We have a lot to learn but over the next number of years it is reasonable to expect that much more will become known about Sotos syndrome.