Advancing knowledge of human development, developmental disabilities, and neurodegenerative diseases.
Fragile X messenger ribonucleoprotein 1 protein (FMRP) deficiency leads to fragile X syndrome (FXS), an autism spectrum disorder.
Fragile X syndrome, the most common form of inherited intellectual disability, may be unfolding in brain cells even before birth, despite typically going undiagnosed until age 3 or later.
One mutation in a single gene, as straightforward as it may sound, can cause a broad range of symptoms and severity among those who carry it. This is the case for fragile X syndrome (FXS), the most common hereditary form of intellectual disability.
