Rett syndrome is a progressive neurodevelopmental disorder, primarily affecting females. Rett syndrome is characterized by acquired microcephaly, loss of purposeful hand movements, and autistic behaviors, following a period of normal growth and development. Additional features include scoliosis, epilepsy, poor growth, and irregular breathing. There is broad clinical variability in the severity of Rett syndrome, including other variants of Rett syndrome.
- MeCP2 mutations are present in 70-90% of females with classic Rett syndrome and approximately 20% of females with atypical Rett syndrome. Partial deletions of MeCP2 are found in approximately 16% of girls with classic or atypical Rett syndrome.
- CDKL5 mutations have been demonstrated in a broad spectrum of phenotypes including atypical Rett syndrome with infantile spasms.
- Mutations of the MEF2C gene have been identified in patients with severe mental retardation, stereotypic movements, hypotonia, and epilepsy. Phenotypic overlap exists between patients with MEF2C mutations and atypical Rett syndrome.
- Abnormalities of the FOXG1 gene have been identified in patients with the congenital variant of Rett syndrome. Patients with the congenital variant of Rett syndrome have features similar to classic Rett syndrome, but hypotonia and severe developmental delay starts in the first months of life.
We offer full gene sequencing for all coding exons and the intron/exon boundaries of MECP2, CDKL5, MEF2C, and FOXG1 as well as deletion/duplication analysis for all four genes by array-CGH. These tests are offered together as a panel or separately (see individual tests for pricing on separate tests).