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RETT Syndrome

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What RETT Syndrome is?

An inherited disorder that affects only females; the syndrome causes mental retardation and developmental degeneration.

Causes, incidence, and risk factors
Rett Syndrome, which affects only females, is a severe progressive neurological disorder that causes marked developmental regression, especially in the areas of expressive language and hand use. The gene associated with this disorder was recently identified on the X-chromosome. This gene encodes methl-CpG-binding protein 2 (MeCP2), which regulates synthesis (transcription) of various other proteins. Synthesis of incorrect proteins due to mutations in the gene causes damage in the maturing cerebrum. The disease severity correlates to specific type of mutation.

Rett Syndrome has an estimated prevalence of seven to ten cases per 100,000 females. Females have two X chromosomes, so even when one has this significant mutation, the other X chromosome partially masks the trait so they can survive. However, males with this mutation are miscarried (spontaneously aborted) during pregnancy, because they do not have a second X chromosome to mask the trait.

Most cases (99.5%) are due to spontaneous mutations, rather than inheritance. However, the incidence of familial cases is higher than would be expected by chance.

There is no known prevention for this condition.


Amoir RE, Van den Veyver IB, et al, Influence of Mutation Type and X-chromosome inactivation on Rett Syndrome Phenotypes Annals of Neurology May 2000, 47(5): 670-9.

Bienvenue T., Carrie A., de Roux N., et al MECP 2 mutations account for most cases of typical forms of Rett Syndrome Hum Mol Genet 2000 May 22; 9(9): 1377

Ellaway C., Christodoulou J., Rett syndrome: Clinical update and review of recent genetic advances J Paediatr. Child Health (1999) 35, 419-426

Van den Veyver IB, Zoghi HY, Methyl-CpG-binding protein 2 mutations in Rett syndrome Current Opinion in Genetics and Development June 2000; 10(3): 275-9.

normal development during first months of infancy
hypotonia ("floppy extremities") is frequently the first manifestation
head growth begins slowing (deceleration in head circumference) at approximately 5-6 months of age.
developmental regression
language development, both expressed and understood, is severely impaired
loss of meaningful hand use, replaced by hand wringing or placement of hand in mouth
autistic-like behavior; loss of social engagement
seizures (1/3 of patients)
intermittent hyperventilation with a disorganized breathing pattern

Signs and tests
Chromosomal analysis may now be used to search for the gene mutation that causes Rett Syndrome. Recent studies have now shown that a mutation of MeCP2 gene can be found in 75% of girls with Rett Syndrome. Earlier studies, which indicated that a smaller percentage of those with Rett Syndrome had the mutation, did not look for as full of an array of mutations.


Julia Roberts

RETT Syndrome International

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