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Gene mutations responsible for Rett syndrome in females present sporadically in males

July 13, 2006 (Baltimore, MD) -- Gene mutations that are responsible for the majority (seventy to eighty percent) of cases of Rett syndrome (RTT) in females are not always lethal in males prior to birth, refuting previous assumptions, and can occur sporadically in infant males without a family history of the disorder. A study published in the journal Neurology reports four sporadic occurrences of MECP2 gene mutations in infant males with progressive encephalopathy. RTT is an X-linked neurodevelopmental disorder that is caused by mutations in the MECP2 gene and is characterized by stagnation of development followed by regression.

In an international collaboration, researchers from the United States and Australia identified and evaluated four non-familial, sporadic occurrences of MECP2 gene mutations. Prior to this study, the majority of reported males with MECP2 mutations had a family history of RTT. Based on the results of this study, MECP2 abnormalities should be evaluated in young infant males who develop progressive encephalopathy including respiratory insufficiency, microcephaly, abnormal muscle tone and various movement disorders, as mutations to the gene may be the source of the infant's neurological problems.

"Boys born to families with a history of Rett syndrome are examined very closely for MECP2 mutations, but beyond these families, physicians usually do not test for mutations to the gene," said Walter E. Kaufmann, M.D., study author and research scientist at the Kennedy Krieger Institute in Baltimore. "Infant males with progressive encephalopathy may go undiagnosed because the prevailing assumption is that males with these mutations die before they are born. We've found that this is not the case, and encourage neonatologists and pediatricians to consider MECP2 as a possible cause of severe neurological abnormalities."

All four newly identified cases exhibited common features, including: moderate or severe early po
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Contact: Emily Butler
ebutler@spectrumscience.com
202-955-6222
Kennedy Krieger Institute
13-Jul-2006


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