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Gene Mutations Causing Rett Syndrome Occur in Both Sexes

tal progressive encephalopathy; unexplained central hypoventilation or respiratory insufficiency; abnormal movements; intractable seizures and abnormal tone. Three of the four cases had definitely pathogenic mutations and the fourth was potentially pathogenic. Acute observations and knowledge of the clinical picture of RTT prompted suspicion of MECP2 mutations in the four newly reported cases.

"While the findings of this study represent an important step forward in learning more about MECP2 mutations in infant males, many questions still remain regarding the role of the gene and its contribution to the encephalopathy of Rett syndrome," said Dr. Gary Goldstein, President and CEO of the Kennedy Krieger Institute. "To help answer these and other questions regarding RTT, Kennedy Krieger has played a leading role in organizing an international consortium of scientists from every major Rett center around the world to conduct clinical studies on the diagnosis and treatment of the disorder."

The consortium, called 'RettSearch,' will provide a forum for scientists to combine research efforts and share results from around the world. With only 15 cases of MECP2 mutations in infant males currently identified worldwide, researchers' observations are limited. Through the 'RettSearch' network, which is being coordinated by Dr. Kaufmann, scientists from Kennedy Krieger and other member institutions hope to identify additional cases and conduct multi-center trials with both males and females with MECP2 mutations and RTT.

About Rett Syndrome Rett Syndrome (RTT) is a neurological disorder often misdiagnosed as autism, cerebral palsy or non-specified developmental delay caused by a defective regulatory MECP2 gene found on the X chromosome. The disorder is seen almost exclusively in females. Unlike females, who have two X-chromosomes, males have an X and a Y chromosome. Because males lack a "backup" copy of the X chromosome that can compensate for a d
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