Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure

Abstract

We therefore conclude that intermediate sized FMR1 CGG repeat alleles should not be considered a high-risk factor for POF based on current evidence.

Similar prevalence of expanded CGG repeat lengths in the fragile X mental retardation I gene among infertile women and among women with proven fertility: a prospective study

“…28 The number of women with expanded FMR1 CGG repeat numbers in this cohort among the women with overt POI was comparable to the incidence rates reported previously. 4,26 The review of all published controlled studies on the prevalence rates of expanded FMR1 CGG repeat numbers revealed that in the absence of a familial risk, the relative risk of carrying the premutation among infertile women with reduced ovarian reserve and/or POI was marginally increased 13,27 or similar 4,28,29 in all but one study. 30 The prevalence rates of CGG repeat lengths of the intermediate range were similar among infertile women with reduced ovarian reserve and/or POI in all reviewed studies.…”

“…30 The prevalence rates of CGG repeat lengths of the intermediate range were similar among infertile women with reduced ovarian reserve and/or POI in all reviewed studies. 4,[27][28][29][30] Recently, no association with FMR1 CGG repeat length with the onset of natural menopause could be demonstrated. 31 Some of the discordant conclusions given by earlier studies may be explained by the characteristics of the control groups.…”

ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics

“…Although earlier studies suggested an association between alleles in this size range and FXPOI, larger subsequent studies did not support these initial findings. 8,9 A small number of patients meeting the criteria for FXTAS with FMR1 intermediate alleles have been described, 62 although larger studies are needed to determine the significance of this finding.…”

“…There is no evidence to support an association between high normal and intermediate range FMR1 alleles with a risk of POI. 8,9 Older males and females with premutations are at risk for FXTAS. [10][11][12][13][14][15][16] FXTAS is a late-onset, progressive development of intention tremor and ataxia often accompanied by progressive cognitive and behavioral difficulties including memory loss, anxiety, reclusive behavior, deficits of executive function, and dementia.…”

Genetic associations with diminished ovarian reserve: a systematic review of the literature

“…Although those with this allele were previously considered to have no specific phenotype, Bretherik et al [30] found an increased intermediate carrier prevalence of 16 % among POI patients compared to 4.8-7.1 % of controls. Contradictory to this, a study by Bennett et al [31] reported that although the presence of a premutation allele was statistically significant in POI patients compared to controls, intermediate alleles were not found to be increased among POI women.…”