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...