Testing for Fragile X Gene Mutations Throughout the Life Span

2009

Mutations of a single gene, fragile X mental retardation 1 (FMR1), give rise to a family of disorders occurring throughout the entire life span, including the most common heritable form of intellectual disability, fragile X syndrome, and premature menopause (primary ovarian insufficiency). Moreover, mutations of FMR1 are the cause of one of the most common single-gene, late-onset neurodegenerative disorders, fragile X?associated tremor/ataxia syndrome (FXTAS). Some clinicians might assume they will rarely if ever encounter one of these disorders; that assumption would be both false and unwise.

Peer-reviewed publications in scholarly journals Published/In Press

Consumers/Families, Professionals

N/A