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. Abnormalities of the FOXG1 [OMIM #164874] gene, or forkhead box G1, have been identified in patients with the congenital variant of Rett syndrome. Ariani F, et al  studied 53 patients with classic Rett syndrome and the variant forms of Rett syndrome. In their study, 2/2 patients with the congenital variant of Rett syndrome had truncating mutations in FOXG1. None of the other patients were found to have mutations or deletions in FOXG1. FOXG1 sequencing is available as an individual test, or as part of the following panels: Rett/Atypical Rett syndrome panel and Comprehensive Intellectual Disability Panel. Please see our information sheets for more details.
Specimen Types Accepted