Academic Commons

Articles

In the Gray Zone in the Fragile X Gene: What are the Key Unanswered Clinical and Biological Questions?

Hall, Deborah A.

Smaller expansions (41–54 CGG repeats) in the fragile X mental retardation 1 (FMR1) gene are termed “gray zone” alleles. Only recently has interest in these expansions increased due to reporting of phenotypes unique to gray zone carriers or similar to those seen in individuals with larger expansions. As minimal research has focused on gray zone expansions, this paper asks several questions related to this topic. These include the following: What is the definition of the gray zone? Is there a risk of developing neurological signs in these carriers? Are there secondary gene effects that impact gray zone alleles or a biologic advantage to carrying these repeats? How do we counsel patients with gray zone expansions? The answers to these questions will help to determine the significance of these expansions and provide needed information to the research community and clinicians.

Subjects

Files

Also Published In

Title
Tremor and Other Hyperkinetic Movements
DOI
https://doi.org/10.7916/D8NG4NP3

More About This Work

Academic Units
Center for Parkinson's Disease and Other Movement Disorders
Published Here
November 2, 2014
Academic Commons provides global access to research and scholarship produced at Columbia University, Barnard College, Teachers College, Union Theological Seminary and Jewish Theological Seminary. Academic Commons is managed by the Columbia University Libraries.