title: Elevated prevalence of 35-44 FMR1 trinucleotide repeats in women with diminished ovarian reserve.
abstract: BACKGROUND
  Fragile X premutations are associated with primary ovarian insufficiency when the patient presents with amenorrhea, but the fragile X mental retardation 1 (FMR1) CGG repeat count among cycling women with low ovarian reserve (diminished ovarian reserve [DOR]) is not yet established.
  
  
  METHODS
  Sixty-two infertile DOR patients were recruited from 4 US private and academic fertility centers.
  
  
  RESULTS
  The prevalence of 35-44 FMR1 CGG repeats was 14.5%. Compared with the general female population estimate from the literature, infertile women with DOR were more likely to have 35-44 FMR1 CGG repeats (14.5% and 3.9%, respectively, P = .0003). Similar findings were noted by 5-repeat bandwidth: 35-39 CGG repeats (9.7% DOR vs 3.2% comparison, P = .012) or 40-44 CGG repeats (4.8% DOR vs 0.7% comparison, P = .024).
  
  
  CONCLUSIONS
  These data suggest that CGG repeats of 35-44 may be markedly overrepresented in women with DOR, whereas the current FMR1 reference range indicates that there is no clinical phenotype with <45 CGG repeats.
authors.affiliation: Department of Obstetrics and Gynecology, University of Virginia, Charlottesville, VA 22908, USA. lpastore@virginia.edu
authors.forename: Lisa M
authors.initials: LM
authors.lastname: Pastore
authors.forename: Steven L
authors.initials: SL
authors.lastname: Young
authors.forename: Valerie L
authors.initials: VL
authors.lastname: Baker
authors.forename: Logan B
authors.initials: LB
authors.lastname: Karns
authors.forename: Christopher D
authors.initials: CD
authors.lastname: Williams
authors.forename: Lawrence M
authors.initials: LM
authors.lastname: Silverman
mesh_terms: D000328:Adult; D000568:Amenorrhea / Q000235:genetics; D015331:Cohort Studies; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D006801:Humans; D007247:Infertility, Female / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics; D016649:Primary Ovarian Insufficiency / Q000097:blood / Q000235:genetics*; D011446:Prospective Studies; D018911:Trinucleotide Repeats / Q000235:genetics*
chemical_list: D005640:Follicle Stimulating Hormone; D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human