title: Number of CGG repeats in the FMR1 gene of Japanese patients with primary ovarian insufficiency.
abstract: OBJECTIVE
  To define the number of CGG repeats in the FMR1 gene of Japanese patients with primary ovarian insufficiency (POI) and normal controls.
  
  
  METHODS
  Retrospective, controlled cohort study.
  
  
  METHODS
  Outpatient department of an academic tertiary center.
  
  
  METHODS
  One hundred twenty-eight consecutive Japanese patients with sporadic, nonsyndromic POI and 98 controls with normal menstruation.
  
  
  METHODS
  Deoxyribonucleic acid was obtained from the plasma of each subject.
  
  
  METHODS
  Differences in the distribution of CGG repeat numbers between patients with POI and controls.
  
  
  RESULTS
  Six alleles in the intermediate range and two in the premutation range were found in five and two patients with POI, respectively, but none were identified in normal controls. The prevalence of FMR1 premutation among Japanese POI patients was 1.56% (2 of 128). The prevalence of having >36 CGG repeats in the FMR1 gene was significantly higher in patients with POI than in controls, and age at the onset of amenorrhea was significantly lower in patients with >38 repeats.
  
  
  CONCLUSIONS
  More than 36 CGG repeats in the FMR1 might intensify the etiology of POI, at least up to the premutation range.
authors.affiliation: Department of Obstetrics and Gynecology, St. Marianna University School of Medicine, Kawasaki, Kanagawa, Japan. ishizuka@marianna-u.ac.jp
authors.forename: Bunpei
authors.initials: B
authors.lastname: Ishizuka
authors.forename: Naoki
authors.initials: N
authors.lastname: Okamoto
authors.forename: Naomi
authors.initials: N
authors.lastname: Hamada
authors.forename: Yodo
authors.initials: Y
authors.lastname: Sugishita
authors.forename: Juichiro
authors.initials: J
authors.lastname: Saito
authors.forename: Noriyuki
authors.initials: N
authors.lastname: Takahashi
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Ogata
authors.forename: Masanori T
authors.initials: MT
authors.lastname: Itoh
mesh_terms: D000328:Adult; D017668:Age of Onset; D000568:Amenorrhea / Q000208:ethnology / Q000235:genetics / Q000503:physiopathology; D044466:Asian People / Q000235:genetics*; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D007564:Japan; D016014:Linear Models; D008875:Middle Aged; D010641:Phenotype; D016649:Primary Ovarian Insufficiency / Q000208:ethnology / Q000235:genetics* / Q000503:physiopathology; D012189:Retrospective Studies; D018570:Risk Assessment; D012307:Risk Factors; D018911:Trinucleotide Repeats; D055815:Young Adult
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human