Rett syndrome progress

less than 1 minute read

Nick Wade has an article about progress toward a treatment for Rett syndrome, a form of autism that almost exclusively affects females.

Researchers have found that Rett syndrome, a severe form of autism, may not be so entirely beyond repair as supposed. In mice that carry the same genetic defect as human patients and have similar symptoms, the disease can be substantially reversed, even in adult mice, by correcting the errant gene.

That's great news, if it pans out as a treatment. A survey of the literature shows that Rett syndrome is associated with mutations of MECP2, and the mutations are essentially sporadic single-family events. MECP2 is an X-linked gene, and most mutations occur on the paternal X chromosome. Males with an affected allele apparently do not survive beyond a year, unless they have an extra X chromosome.

Anyway, all those details are in OMIM. I'm looking for genes with recurrent sporadic mutations beyond the well-known examples like neurofibromatosis and myotonic dystrophy.