What kind of mutation causes Rett syndrome?

What causes Rett syndrome? Almost all cases of Rett syndrome are caused by a mutation (a change in the DNA) in the MECP2 gene, which is found on the X chromosome (one of the sex chromosomes). The MECP2 gene contains instructions for producing a particular protein (MeCP2), which is needed for brain development.

What kind of genetic disease is Rett syndrome?

Classic Rett syndrome is most commonly caused by mutations in the MECP2 gene and is usually inherited in an X-linked dominant manner. The vast majority of cases are not inherited from a parent, but are due to a new mutation in the affected person.

Is Rett syndrome genetic or epigenetic?

Rett syndrome is almost exclusively a disease that affects girls (XX), yet is not a disease with epigenetic inheritance, such as Prader-Willi syndrome and Angelman syndrome, where the clinical outcome depends on whether a mutation is transmitted from a paternal or maternal chromosome, and RTT mutations are not …

How does Rett syndrome affect DNA?

Methylation of cytosine in human DNA has been studied for over 60 years, but has only recently been confirmed as an important player in human disease. Rett syndrome is a neurological disorder caused by mutations in the MeCP2 protein, which has been shown to bind methylated DNA and repress transcription.

Is Rett syndrome inheritable?

Is Rett syndrome inherited? Although Rett syndrome is a genetic disorder, less than 1 percent of recorded cases are inherited or passed from one generation to the next. Most cases are spontaneous, which means the mutation occurs randomly.

How old is the oldest person with Rett Syndrome?

Scotland’s oldest Rett Syndrome sufferer dies aged 42 in tragic accident. JANE LEES drowned in her bath at home in Milngavie having inspired hundreds of families by living a full life despite her condition.