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Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder characterized by mild-to-moderate intellectual disability. [1] The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled.
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder most frequently seen in male premutation carriers of Fragile X syndrome (FXS) over the age of 50. [4] [5] The main clinical features of FXTAS include problems of movement with cerebellar gait ataxia and action tremor.
Fragile X syndrome affects about two to five percent of people with ASD. [40] If one child has Fragile X, there is a 50% chance that boys born to the same parents will have Fragile X (see Mendelian genetics). Other members of the family who may be contemplating having a child may also wish to be checked for the syndrome.
The condition is commonly inherited in connection with fragile X syndrome (FXS), which is also the second most common genetic cause of intellectual disability. [1] The condition is also a rare sign of McCune–Albright syndrome. [2] The opposite of macroorchidism is called microorchidism, which is the condition of abnormally small testes.
FMR1 (Fragile X Messenger Ribonucleoprotein 1) is a human gene [5] that codes for a protein called fragile X messenger ribonucleoprotein, or FMRP. [6] This protein, most commonly found in the brain, is essential for normal cognitive development and female reproductive function.
The paradox was named in the late 1980s after American geneticist Stephanie Sherman, who studied the inheritance patterns of people with fragile X syndrome. Sherman observed that the effects of fragile X syndrome seemed to occur more frequently with each passing generation. This observation became known as the Sherman paradox. [2]
Fountain syndrome; Foville's syndrome; Fragile X syndrome; Fragile X-associated tremor/ataxia syndrome; Franceschetti–Klein syndrome; Frank–ter Haar syndrome; Fraser syndrome; Frasier syndrome; Freeman–Sheldon syndrome; Frey's syndrome; Froin's syndrome; Fryns syndrome; Functional somatic syndrome
Fragile X mental retardation syndrome-related protein 1 is a protein that in humans is encoded by the FXR1 gene. [ 5 ] [ 6 ] [ 7 ] The protein encoded by this gene is an RNA binding protein that interacts with the functionally similar proteins FMR1 and FXR2.