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. The gene abnormality prevents nerve cells in the brain from workingproperly.
There's usually nofamily history ofRett syndrome, which means it isn't passed on from one generation to the next. Almost all cases (over 99%) are spontaneous, with the mutation occurring randomly. This is known as a 'de novo' mutation.
Medically Reviewed by a doctor on 21 Dec 2018
Introduction
Read about Rett syndrome, a rare genetic disorder that affects brain development and causes severe physical and mental disability from early childhood.
Signs and symptoms
Some children with Rett syndrome are affected more severely than others.Also,the age at which symptoms first appear varies from child to child. A childwith Rett syndrome may not haveevery symptom lis
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 instruct
DiagnosingRett syndrome
Rett syndrome is usually diagnosed based on your child's symptoms, and by ruling out other more common disorders. A diagnosis of Rett syndrome may not be madefor a number of years because the syndrom
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