About Angelman Syndrome
AS Genotypes: Deletion
A deletion removes the normal expression of this gene in AS individuals. The majority of AS cases are caused by deletions on the maternal copy of Chromosome 15.
People with AS deletions are often missing not just UBE3A but also 8-12+ other genes. This means they are missing 5-6 MILLION base pairs of DNA on the maternal allele. They are absolutely null for UBE3A, but they have other genes that are also haplo-insufficient, which additionally contributes to tonic inhibition, seizures, lighter coloring, and more. All together, this makes the features of those with AS deletion generally somewhat more severe from the three other, less populous genotypes.
All the pharmaceutical companies in our space have stated that they want to have the most consistent group for the earliest phases of clinical trials (Phase 1/2), and in many cases they want the most severely affected to start with. That is generally considered to be those with deletions.
All 4 of the current trials underway are enrolling patients with AS deletions. Visit this page to learn more about them.
Connect with other AS Deletion families by writing to us here: email@example.com