Rett syndrome
From SNPedia
At a minimum, these SNPs are known to be related, and others may also be
Occurring almost exclusively in girls, Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder, usually caused by de novo mutations in the MECP2 gene. Rett syndrome is inherited in an X-linked dominant manner, almost always arising from the paternally derived X chromosome.GHR
Although over 300 Rett syndrome mutations are listed in RettBASE, more than 70% of the disease causing MECP2 mutations are a relatively small number of primarily C to T transitions. These point mutations are:
- rs28934907: C316T
- rs28934904: C397T
- rs61748404: C455G
- rs28934906: C473T
- rs61748421: C502T
- rs61749721: C763T
- rs61750240: C808T
- rs61751362: C880T
- rs28935468: C916T
A perspective on “cure” for Rett syndrome: 10.1186/s13023-018-0786-6
