RETT syndrome (MECP2 gene)

Mutations of the MECP2 gene, on the X chromosome, cause a series of severe neurodevelopmental disorders, affecting both women and men. It is inherited in a sex-linked dominant manner and in women it may be manifested as: classic Rett syndrome, non-classic Rett syndrome or with moderate developmental delay and mental retardation. It is rarer in boys, exhibiting severe fetal encephalopathy and microcephaly as well as psychotic disorders (PPM-X syndrome). Frequency of this syndrome in females is ~1/8500.

We apply mutation detection of the entire MECP2 gene, using full bi-directional automated fluorescent DNA sequencing as well as testing for deletions/duplications, covering in total >99% of mutations for this disorder.

This test may also be applied in combination with:

• Subtelomeric deletions/duplications
• Fragile X syndrome (FRAXA, FRAXE)
• Sex-linked mental retardation