Gene Mutations Responsible For Rett Syndrome In Females Present Sporadically In Males

... Gene mutations that are responsible for the majority (70 to 80 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. ...