Causes & Diagnosis
Mutation in the MeCP2 gene causes Rett syndrome. This mutation can be detected through gene analysis from a single blood test.
Rett syndrome diagnosis is tricky and it may be misdiagnosed as autism or cerebral palsy.
In the majority of Rett syndrome cases, a faulty gene causes the disease.
A mutation in the Methl-CpG-Binding Protein 2 (MeCP2) gene is believed to cause the disease. The gene MeCP2 is located on the X chromosome.
MECP2 gene mutation can be detected through gene analysis from a single blood test.
Approximately 85% of all Rett syndrome patients test positive for a MECP2 mutation. It is likely that the remaining 15% occur through yet-to- be- established mutations.
Testing positive for mutations is not mandatory for the diagnosis. Most of the diagnoses are still based on symptoms and clinical history.
When the mutation occurs in one of the X-chromosome of female fetuses they survive as they have two copies of the X- chromosome (and therefore they have one normal copy of the gene).
This is not so in the case of male fetuses (as they have only one copy of the X chromosome) and, therefore, do not survive a miscarriage.
