On family history, her maternal grandfather and two maternal first-cousins were reported to have been diagnosed with fragile X syndrome, while her mother and two maternal aunts were reported to be carriers for the fragile X premutation
; however, the family was unable to provide additional details on the extent of the fragile X diagnoses.
Mila, "Skewed X inactivation in women carrying the FMR1 premutation
and its relation with fragile-X-associated tremor/ataxia syndrome," Neurodegenerative Diseases, vol.
carriers with repetition of CGG triplets between 55 and 200, are at high risk to develop Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) or Fragile X-associated Primary Ovarian Insufficiency (FXPOI) (8, 9, 10).
The FMR1 (Fragile X) premutation
carrier status could be a cause, or presence of 21-hydroxylase and/or adrenal antibodies indicate autoimmune polyglandular syndrome.
Retrotransposon activation contributes to fragile X premutation
DMPK alleles are categorized into 3 groups based on the number of CTG repeats: normal (5-34 CTGs), mutable normal or premutation
(35-49 CTGs), and full penetrance ([greater than or equal to]50 CTGs).
Qin et al., "RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation
repeat-induced neurodegeneration in a Drosophila model of FXTAS," Neuron, vol.
It can be the result of ovarian surgery, chemotherapy, radiotherapy, chronic smoking, autoimmune disorders, and various genetic risk factors like X chromosome derangements  and fragile X mental retardation 1 (FMR1) premutation
Alleles with between 5 and 54 CGG repeats and between 55 and 200 CGG repeats are classified as normal and premutation
The CGG tandem repeat variation length is defined as normal ([less than or equal to]50), premutation
(50-200) and full mutation ([greater than or equal to]200 tandem repeats).
His heart rate variability test revealed autonomic system involvement toward parasympathetic activity and his genetic test revealed expanded CGG repeat above 60 within the premutation
range (55-200) in the fragile X mental retardation I (FMRI)gene.
Expansion of the fragile X CGG repeat in females with premutation
or intermediate alleles.