Researchers at the University of Queensland in Australia may have found the explanation for this debilitating and rare genetic disorder known as Sotos Syndome and Marshall Smith Syndrome. The research explores how gene mutation in the stem cells behave resulting to the disorder which is responsible for overgrowth and unusual developments in the brain
Over 1,500 Australians, who are experiencing the symptoms of the Sotos and Marshall Smith Syndrome, will hopefull get an anwer to their question on why their brains have an unusual development. UQ News said the research will be able to help patients understand their illnesses better.
"Each unborn child has a certain number of stem cells in their developing brain.These stem cells need to differentiate, at the right time during brain development, to make the right number of neurons.We found that deficiency in a gene called Nuclear factor one (NFIX) leads to the development of larger brains - an attribute common in Sotos and Marshall Smith patients," said Lachlan Harris, lead author of the research at UQ's School of Biomedical Sciences.
Nature said patients with the genetic disorder called Marshall Smith Syndrome experience intellectual disability, respiratory difficulty, failure to thrive, accelerated skeletal maturation, unusual forehead, depressed nasal bridge and other unusual facial features. The Syndrome is said to be caused by NFIX gene mutations.
Dr Michael Piper, a brain expert at the University of Queensland the new information will help provide diagnostic, counselling and advance information not only to parents but also to children who have the gene mutation disorder so they would be better off preparing for it. Daniel Hines for one got frustrated with the few information he can get about the Sotos and Marshall Smith Syndromes ever since his five-year old daughter was diagnosed with the disorder.
Hines and all the other parents whose children have been diagnosed with the Sotos and Marshall Smith Syndromes can now bank on the new research to provide them more information on how to manage the disorder. There is a Facebook page established specifically for the Sotos Syndrome Group and this has also helped them provide more information.
