Rett Syndrome: A Brief Overview

Rett Syndrome was first described in 1966 by Dr. Andreas Rett, an Austrian physician. Because it is caused by mutations on the X chromosome (specifically, on the MECP2 gene), it almost exclusively occurs in females. Females have two X chromosomes, so the mutation found on one chromosome is somewhat compensated for by the other. In males, however, mutations on the X chromosome cannot be compensated for by the Y chromosome. So males with the condition will most likely die prior to or shortly after birth. Rett Syndrome is found in every race and social economic class. It affects one in … Continue reading