Rett Syndrome (RTT) was first recognized in 1954 by the Austrian pediatrician Andreas Rett. His publication in the German medical literature in 1966, however, remained largely unnoticed. It wasn’t until 1983, when Doctor Bengt Hagberg, who recognized, virtually simultaneously, girls with RTT, revealed this unique syndrome to the international medical world. He did it with an English description of RTT. Thereafter, RTT received considerable attention throughout the world.

 

Almost 20 years later, in 1999, a group of researchers leaded by Ruthie E. Amir discovered that the MECP2 gene, located on the X chromosome, was the gene altered in most cases of RTT.