Researchers Scrutinize Critical Rett Mutation  Thu, 07/11/2013 -
3:17pm Harvard Medical School  Active neuron. (Source: Harvard
Medical School)  Rett syndrome is all about loss. Like autism,
this disorder of neurological development steals abilities from
children. It strikes around their first birthdays, just as they
are learning to walk and talk.  Unlike autism, whose cause
remains a mystery, Rett syndrome has been definitively traced to
mutations in a single gene. An X chromosome-linked disorder, it
affects girls almost exclusively, causing regression in language
acquisition and motor control as well as seizures and
respiratory problems.  Identifying the faulty gene is only the
first step on the road toward a better understanding of what
goes wrong to cause Rett syndrome and what might correct it. HMS
researchers working closely with collaborators from Edinburgh
and Oregon are gaining deeper understanding of the specific
molecular pathways behind the cluster of genetic mutations—any
one of which can derail