Course : MOC Part IV: Assessment and Management of Fragile X syndrome
Fragile X syndrome (FraX) is the most common hereditary form of intellectual disability with an incidence of approximately 1 in 2,500 affected individuals. There is significant variation in prevalence data. FraX involves an unstable trinucleotide repeat expansion (CGG). Individuals with full mutation of FraX have >200 CGG repeats and premutation carriers have 55-200 repeats. The clinical phenotype for fragile X syndrome in most males is recognizable, but can be subtle in females with both the full mutation and premutation of FraX. The clinical variability for fragile X syndrome is related to the degree of methylation, gene silencing, and AGG interruptions. Carriers of a prematuation can present with one or more clinical disorders: mild cognitive and/or behavioral deficits; primary ovarian failure (POF); fragile X-associated tremor/ataxia syndrome (FXTAS). Individuals with both the full mutation and premutation of FraX require lifetime quality medical service from a clinical geneticist, including diagnostic confirmation, clinical evaluation, laboratory testing, and health supervision/age-specific anticipatory guidance, management of disease-specific manifestations, genetic counseling, and discussion of current approaches to therapy.
ACMG Members and ACMG Trainees ($25)
Assess and manage Fragile X Syndrome, the initial and ongoing care of patients with Fragile X syndrome. This does NOT include prenatal screening but the post natal care of patients.