RETT syndrome

Material

2 ml EDTA blood

OMIM

300005

Methods

Verification of mutations in the MECP2 gene by PCR and sequencing

Clinical relevance

Mutation analysis for differential diagnosis in patients with

 

- mental retardation

- microcephaly

- loss of expressive language and hand use

- ataxia

- epilepsy

- respiratory Disorders

- scoliosis

General notes

Patients with RETT syndrome suffer from a developmental disorder of the central nervous system (CNS), which leads - almost exclusively in girls - to a clinical picture with main symptoms such as mental retardation, microcephaly, loss of expressive language and hand use. Other symptoms may include ataxia, seizures, respiratory disorders, and scoliosis, and severity of the individual symptoms is subject to considerable variability. In recent publications, mutations in the MeCP2 gene were also detected in boys. The clinical picture ranges from severe encephalopathy to unspecified mental retardation.

 

Rett syndrome has a prevalence of approx. 1:10,000 among newborn girls and is one of the most common causes of severe mental retardation in girls. The vast majority of cases of Rett syndrome are sporadic due to new mutations that are not detectable in the parents; thus, there is no increased risk of re-occurrence in other children of these parents. The number of familial cases is below one percent. So far, 400 different mutations in the MeCP2 gene have been described (The Human Gene Mutation Database, as of 09.2007), which are responsible for approximately 70% of RETT syndrome cases.

Last update: 18.06.2018

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