Intermediate and premutation FMR1 alleles in women with occult primary ovarian insufficiency

Streuli, Isabelle; Fraisse, Timothée; Ibéchéole, Victoria; Moix, Isabelle; Morris, Michael A.; Ziegler, Dominique de

doi:10.1016/j.fertnstert.2008.07.007

Cited by 65 publications

(87 citation statements)

References 47 publications

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“…4 Among infertile women with reduced ovarian reserve but without POI, the prevalence rates of the premutation tended to be even lower, varying between 1.3 28 and 5.6%. 29 In this study, in which the cohorts were selected based on (in) fertility issues entirely unrelated to the fragile X syndrome, the prevalence rates of expanded FMR1 CGG repeats among fertile women were comparable with known population-based incidence rates, whereas those of infertile women were comparable with the incidence rates found in another large scale survey among infertile women. 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.…”

Section: Discussionmentioning

confidence: 52%

“…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.…”

Section: Discussionmentioning

confidence: 96%

“…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.…”

Section: Discussionmentioning

confidence: 99%

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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

Geyter

M’Rabet

Geyter

et al. 2014

Genetics in Medicine

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Section: Discussionmentioning

confidence: 52%

Section: Discussionmentioning

confidence: 96%

Section: Discussionmentioning

confidence: 99%

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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

Geyter

M’Rabet

Geyter

et al. 2014

Genetics in Medicine

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“…In the past 10 years, reports have suggested that 35 to 44 CGG, 4,5 35 to 54 CGG, 6 and <28 CGG repeat lengths 7 may be associated with early ovarian aging. It has recently been reported that women who have both alleles with fewer than 23 repeats have an increased odds of having a child with a disability.…”

Section: Discussionmentioning

confidence: 99%

FMRI CGG Repeats:Reference Levels and Race-Ethnic Variation in Women With Normal Fertility (Study of Women’s Health Across the Nation)

et al. 2016

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, and potentially women with high normal (35)(36)(37)(38)(39)(40)(41)(42)(43)(44) or low normal (<28) CGG repeats, are at risk of premature ovarian aging. The scarcity of population data on CGG repeats <45 CGG, and variation in raceethnicity, makes it difficult to determine true associations. DNA was analyzed for FMR1 CGG repeat lengths from 803 women (386 caucasians, 219 African Americans, 102 Japanese, and 96 Chinese) from the US-based Study of Women's Health Across the Nation (SWAN). Participants had 1 menses in the 3 months before enrollment, 1 pregnancy, no history of infertility or hormonal therapy, and menopause 46 years. Statistical analyses used Fisher exact tests. Among these women with normal reproductive histories, significant FMR1 repeat length differences were found across race-ethnicity for both the longer (P ¼ .0002) and the shorter (P < .0001) alleles. The trinucleotide length variance was greater for non-Asian than Asian women (P < .0001), despite identical median values. Our data indicate that short allele lengths <25 CGG on one or both alleles are more common in non-Asian than Asian women. We confirm the minor allele in the 35 to 39 CGG range among Asians as reported previously. Only 2 (0.3%) premutation carriers were identified. These data demonstrate that FMR1 distributions do vary by race-ethnicity, even within the ''normal'' range. This study indicates the need to control for race-ethnicity in FMR1 ovarian aging research and provides race-ethnic population data for females separated by allele.

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“…In 2009, Streuli et al published a paper on a study conducted on 27 patients with low ovarian reserve and 32 controls, setting the intermediate mutation range at 41-60 CGG repeats [89]. In the group of patients with low ovarian reserve, the mean size of CGG repeats was 33, while in controls it was 28.…”

Section: Fmr1 Gene Mutations and Reproductive Agingmentioning

confidence: 99%

The impact of FMR1 gene mutations on human reproduction and development: a systematic review

Noto

Harrity

Walsh

et al. 2016

J Assist Reprod Genet

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Purpose This is a comprehensive review of the literature in this field attempting to put the FMR1 gene and its evaluation into context, both in general and for the reproductive health audience. Methods Online database search of publications with systematic review of all papers relevant to ovarian reserve and assisted reproduction was done. Results Relevant papers were identified and assessed, and an attempt was made to understand, rationalize and explain the divergent views in this field of study. Seminal and original illustrations were employed. Conclusions FMR1 is a highly conserved gene whose interpretation and effect on outcomes remains controversial in the reproductive health setting. Recent re-evaluations of the commonly accepted normal range have yielded interesting tools for possibly explaining unexpected outcomes in assisted reproduction. Fragile X investigations should perhaps become more routinely assessed in the reproductive health setting, particularly following a failed treatment cycle where oocyte quality is thought to be a contributing factor, or in the presence of a surprise finding of diminished ovarian reserve in a young patient.

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Intermediate and premutation FMR1 alleles in women with occult primary ovarian insufficiency

Cited by 65 publications

References 47 publications

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

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

FMRI CGG Repeats:Reference Levels and Race-Ethnic Variation in Women With Normal Fertility (Study of Women’s Health Across the Nation)

The impact of FMR1 gene mutations on human reproduction and development: a systematic review

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