Studies of FRAXA and FRAXE in women with premature ovarian failure.

Murray, Anna; Webb, James L.; Grimley, Sara; Conway, Gerard S.; Jacobs, PatriciaA.

doi:10.1136/jmg.35.8.637

Cited by 142 publications

(109 citation statements)

References 19 publications

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“…6,7 However the underlying mechanism is not known. One feature of the association is that not all premutation carriers are affected.…”

Section: Discussionmentioning

confidence: 99%

“…6 Also studies of women ascertained because of POF have shown that they have about a 2% chance of being a premutation carrier, which can rise to 16% for familial cases. 7 A study by Turner et al 8 suggested an increased incidence of dizygous twinning in premutation carriers but not in full mutations and normal relatives, but this was not substantiated in a study by Sherman et al 9 The rate of dizygous twinning is known to increase with maternal age, 10 and an excess of dizygous twins in premutation carriers might be symptomatic of the generalised premature aging of the ovaries that gives rise to early menopause. Inference might predict that premutation carriers have an excess of trisomic conceptuses, as this too is correlated with advanced maternal age.…”

Section: Introductionmentioning

confidence: 99%

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Reproductive and menstrual history of females with fragile X expansions

Ennis²,

et al. 2000

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FRAXA premutations have been associated with premature ovarian failure (POF) or menopause before the age of 40. We have studied women in families ascertained because of a mentally retarded full mutation relative and determined their age of menopause, serum hormone levels in premenopausal individuals and the outcome of any pregnancies. Survival analysis was used as a measure of menopause and demonstrated a significant decrease in age of menopause in premutation carriers compared with their full mutation carrier and normal relatives. Serum FSH was also raised in premutation carriers, although oestradiol, inhibin A and inhibin B were not significantly different. However, we did not find an excess of dizygous twins or pregnancy loss/trisomies, both of which are associated with aging ovaries. Thus premutation carriers as a group have an earlier menopause and raised serum FSH but do not appear to manifest other features of an aging ovary.

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“…6,7 However the underlying mechanism is not known. One feature of the association is that not all premutation carriers are affected.…”

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Reproductive and menstrual history of females with fragile X expansions

Ennis²,

et al. 2000

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“…Two previous studies on series of women with POF point in the same direction. In the United Kingdom, the screening of 147 women with idiopathic POF for the fragile X premutation, revealed six premutation carriers (4.1%), four among 25 women with familial POF (16%), and two others among 122 women with sporadic POF (1.6%) (Murray et al, 1998). In Italy, six carriers (6%) were found among 106 FMR1 premutation and premature menopause 425 women with POF, four among 33 familial cases (12%), and two among 73 sporadic cases (3%) (Marozzi et al, 2000).…”

Section: Discussionmentioning

confidence: 99%

“…However, given that more than 30% of all POF cases are familial, there must be many more POF-causing alleles awaiting discovery. Accordingly, it was a breakthrough when a significant association between the fragile X premutations and POF was demonstrated both by the analysis of women carrying premutations, and by the screening of women affected by POF (Cronister et al, 1991;Schwartz et al, 1994;Conway et al, 1995, Vianna-Morgante et al, 1996Murray et al, 1998;Allingham-Hawkins et al, 1999;ViannaMorgante et al, 1999;Marozzi et al, 2000).…”

Section: Introductionmentioning

confidence: 99%

The FMR1 premutation as a cause of premature ovarian failure in Brazilian women

et al. 2006

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The loss-of-function mutation of the FMR1 gene due to expansion of the 5' UTR CGG repeat causes the fragile X syndrome, the most frequent form of inherited mental retardation. On the other hand, the FMR1 premutation, which is transcriptionally active and produces the protein, confers an increased risk for premature ovarian failure (POF) to carrier females. Among 41 unrelated Brazilian women with idiopathic POF, we found three carriers of premutations (CGG expansionse ³ 59 repeats) and two carriers of high-intermediate alleles (50-55 repeats). Two premutations and two intermediate alleles were detected among the 16 familial POF cases, and one premutated woman, among the 25 sporadic cases. The premutation frequency among the familial cases (12.5%) differed significantly from that found in a control group of 96 unrelated Brazilian women aged ³ 47 years, who had not experience POF and in which no premutations or high-intermediate alleles were detected. In the search for factors influencing the probability of a premutation carrier presenting POF, another 20 unrelated premutated women with POF, from fragile X families, were included in the study. The analysis of the FMR1-linked loci DXS548 and FRAXAC1 did not indicate any association of a particular haplotype with the occurrence of POF. An effect of X-inactivation skewing was not apparent in blood cells, and POF-associated premutations showed a wide range of repeat sizes, from 59, the smallest known to expand to full mutations upon transmission to offspring, to approximately 200.

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“…In Turner Syndrome, ovarian failure is probably due to the haploinsufficiency of genes situated on the critical regions of the X chromosome that escape inactivation (Zinn et al, 1998, Elsheikh et al, 2002, Sybert et al, 2004. In the X Fragile Syndrome, women carrying premutations in FMR1 (Murray et al, 1998, AllinghamHawkins et al, 1999 or presenting microdeletions within the FMR2 gene (Murray et al, 1999) show significant predisposition to develop premature menopause. Furthermore, sequence variants in Xlinked genes have been associated with POF.…”

Section: Introductionmentioning

confidence: 99%

Recent advances in the study of genes involved in non-syndromic premature ovarian failure

Laissue

Vinci

Veitia

et al. 2008

Molecular and Cellular Endocrinology

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Please cite this article as: Laissue, P., Vinci, G., Veitia, R.A., Fellous, M., Recent advances in the study of genes involved in non-syndromic premature ovarian failure, Molecular and Cellular Endocrinology (2007), doi:10.1016/j.mce.2007 This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain. A c c e p t e d M a n u s c r i p t AbstractPremature ovarian failure (POF) is a common pathology leading to infertility affecting about 1% of women under 40 years old. In POF patients, the ovarian dysfunction is characterised by the lack of the ovarian response to close a negative feedback loop on the synthesis of pituitary gonadotropins.Although the majority of cases are considered as idiopathic, diverse aetiologies have been associated, including genetic factors. Up to now, the potential genetic causes of non-syndromic POF have been established mainly by genetic linkage analysis of familial cases or by the screening of mutations in candidate genes based on animal models. Here, we review recent advances in the study of candidate genes.

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Studies of FRAXA and FRAXE in women with premature ovarian failure.

Cited by 142 publications

References 19 publications

Reproductive and menstrual history of females with fragile X expansions

Reproductive and menstrual history of females with fragile X expansions

The FMR1 premutation as a cause of premature ovarian failure in Brazilian women

Recent advances in the study of genes involved in non-syndromic premature ovarian failure

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