What is Rett syndrome caused by?

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 body systems are affected by Rett syndrome?

Rett syndrome is a severe condition of the nervous system. It is almost only seen in females, and affects all body movement. Rett syndrome may cause speech problems (such as inability to learn to speak, or loss of speech), difficulty walking or loss of the ability to walk, and loss of purposeful hand use.

Are there any famous cases of Rett syndrome?

Popular on Variety October is Rett Syndrome Awareness Month, and celebrities like Sofia Vergara, Billy Eichner, Nick Offerman, Andy Samberg, Sarah Silverman, Jamie Lee Curtis, and more have partnered with the RSRT for a public service announcement and social campaign that launched on Oct.

What challenges do people with Rett syndrome face?

Over time, children with Rett syndrome have increasing problems with the use of muscles that control movement, coordination and communication. Rett syndrome can also cause seizures and intellectual disabilities. Unusual hand movements, such as repetitive rubbing or clapping, replace purposeful hand use.

Where is Rett syndrome most common?

Rett syndrome occurs almost exclusively in girls. The incidence of Rett syndrome in the United States is estimated to be 1 in 10,000 girls by age 12.

Why is Rett syndrome only found in females?

Why is Rett syndrome usually only found in girls? Females have two copies of the X chromosome and males have one X and one Y chromosome. The MECP2 gene is found on the X chromosome, so females born with one normal and one changed copy of the MECP2 gene usually develop the symptoms of Rett syndrome.

Is Rett syndrome recessive or dominant?

These cases helped researchers determine that classic Rett syndrome and variants caused by MECP2 gene mutations have an X-linked dominant pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes.

What is unknown about Rett syndrome?

Crying and irritability – Although cause is unknown, children with Rett Syndrome may experience pronounced periods of crying and irritability as they get older (perhaps due to anxiety or fear, and the inability to verbalize feelings).

Why do males not get Rett syndrome?

The syndrome is mainly caused by mutations in the MECP2 gene located on the X chromosome and whose function includes regulating the activity of many other genes. Because males have only one X chromosome, this means that a mutation in the MECP2 gene cannot be compensated by a healthy gene copy.

Who carries the gene for Rett syndrome?

In nearly all cases, the genetic change that causes Rett syndrome is spontaneous, meaning it happens randomly. Such random mutations are usually not inherited or passed from one generation to the next. However, in a very small percentage of families, Rett mutations are inherited and passed on by female carriers.

What is Rett syndrome common name?

Other Names for This Condition

• Autism-dementia-ataxia-loss of purposeful hand use syndrome.
• Rett disorder.
• Rett’s disorder.
• Rett’s syndrome.
• RTT.

How old is the oldest person with Rett syndrome?

The patient presented here was clinically diagnosed with RTT at the age of 66 years and now the presence of one of the common missense mutations in MECP2 has been demonstrated. Additionally, skewed X-chromosome inactivation was found. It is likely that this woman is the one of the oldest living patients with RTT.

What is the most likely mode of inheritance for Rett syndrome?

Classic Rett syndrome is most commonly caused by genetic changes 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 genetic change in the affected person.