NATIONAL INSTITUTES OF HEALTH RESEARCH PLAN ON FRAGILE X SYNDROME AND ASSOCIATED DISORDERS

Fragile X syndrome (FXS), caused by a mutation in a specific gene on the X chromosome, is the most common inherited cause of intellectual and developmental disabilities (IDD). Variation within the same gene has been linked to Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), a tremor/ataxia disorder occurring primarily in older men, and Fragile X-associated Primary Ovarian Insufficiency (FXPOI), generally identified in woman of child bearing age. Collectively, FXS, FXTAS, and FXPOI represent a major health burden and have far-reaching implications for individuals, families, and their future generations.