Related conditions FMR1




1 related conditions

1.1 fragile x syndrome
1.2 fragile x-associated tremor/ataxia syndrome
1.3 premature ovarian aging
1.4 polycystic ovarian syndrome





related conditions
fragile x syndrome

almost cases of fragile x syndrome caused expansion of cgg trinucleotide repeat in fmr1 gene. in these cases, cgg abnormally repeated 200 more 1,000 times. result, part of fmr1 gene methylated, silences gene (it turned off , not make protein). without adequate fmrp, severe learning deficits or mental retardation can develop, along physical abnormalities seen in fragile x syndrome.


fewer 1% of cases of fragile x syndrome caused mutations delete part or of fmr1 gene, or change base pair, leading change in 1 of amino acids in gene. these mutations disrupt 3-dimensional shape of fmrp or prevent protein being synthesized, leading signs , symptoms of fragile x syndrome.


a cgg sequence in fmr1 gene repeated between 55 , 200 times described premutation. although individuals premutation intellectually normal, of these individuals have mild versions of physical features seen in fragile x syndrome (such prominent ears) , may experience mental health problems such anxiety or depression.


fragile x-associated tremor/ataxia syndrome

premutations associated increased risk of fragile x-associated tremor/ataxia syndrome (fxtas). fxtas characterized ataxia (loss of coordination), tremor, memory loss, loss of sensation in lower extremities (peripheral neuropathy) , mental , behavioral changes. disorder develops late in life.


premature ovarian aging

the fmr1 gene plays important role in ovarian function, independent cognitive/neurological effects. minor expansions of cgg repeats not cause fragile x syndrome associated increased risk premature ovarian aging, called occult primary ovarian insufficiency, condition in women prematurely deplete ovarian function.


polycystic ovarian syndrome

a specific sub-genotype of fmr1 has been found associated polycystic ovarian syndrome (pcos). gene expression, called heterozygous-normal/low may cause pcos-like excessive follicle-activity , hyperactive ovarian function when women younger.








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