X Chromosome Genes and Premature Ovarian Failure

Bione, Silvia; Toniolo, Daniela

doi:10.1055/s-2000-13475

Cited by 23 publications

(14 citation statements)

References 47 publications

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“…This may determine whether a POF gene is indeed present or POF is due to other causes such as X inactivation or alterations in chromosome pairing, as suggested. 20 The results show that the POF phenotype depends form the deletion and from additional factors. One could be X chromosome inactivation.…”

Section: Discussionmentioning

confidence: 91%

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A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28

Rossetti¹,

Rizzolio²,

Pramparo

et al. 2004

Eur J Hum Genet

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Terminal deletions of the long arm of the human X chromosome have been described in women with premature ovarian failure (POF). We report here the molecular characterization of an inherited deletion in two affected women and in their mother. The two daughters presented secondary amenorrhea at 17 or 22 years respectively, while the mother was fertile. She had four children, but she eventually had premature menopause at 43 years of age. The fine molecular analysis of the deletion showed that the three women carried an identical deletion. We conclude that the phenotypic difference within the family must be attributed to genetic or environmental factors and not to the presence of different extent deletions. By comparison with other deletions in the region, we map a susceptibility gene for POF to 4.5 Mb, in the distal part of Xq.

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Section: Discussionmentioning

confidence: 91%

“…Other possibilities may explain the different phenotypes as other environmental factors, such as those known to affect ovulation 20,22 and the inheritance of a modifying genetic factor. No evidence for the latter hypothesis could be obtained from the family history, and further experiments are needed to clarify this point.…”

Section: Discussionmentioning

confidence: 99%

A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28

Rossetti¹,

Rizzolio²,

Pramparo

et al. 2004

Eur J Hum Genet

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“…These data suggest that the rearranged X chromosome of patient 2 was of paternal origin. 90 implicated in ovarian function [Bione et al, 1998;Bione and Toniolo, 2000;Mansouri et al, 2008]. Copy number changes of other genes might also have contributed to the ovarian dysfunction in patients 1 and 2, because multiple X-chromosomal loci have been linked to this phenotype [Zhong and Layman, 2012].…”

Section: Discussionmentioning

confidence: 99%

“…The clinical features of these women, such as ovarian dysfunction and short stature, are ascribable to X-chromosomal mispairing and haploinsufficiency of genes that escape X inactivation [Zhong and Layman, 2012]. Mutations in BMP15 at Xp11.22, POF1B at Xq21.1, DIAPH2 at Xq21.33, or PGRMC1 at Xq24 have been shown to lead to ovarian dysfunction, while mutations in SHOX at Xp22.33 impair skeletal growth [Bione et al, 1998;Bione and Toniolo, 2000;Mansouri et al, 2008;Zhong and Layman, 2012]. However, considering the limited number of reported cases, further studies are necessary to clarify the phenotypic characteristics of germline complex X-chromosomal rearrangements.…”

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confidence: 99%

Complex X-Chromosomal Rearrangements in Two Women with Ovarian Dysfunction: Implications of Chromothripsis/Chromoanasynthesis-Dependent and -Independent Origins of Complex Genomic Alterations

Suzuki

Shima²,

Toki

et al. 2016

Cytogenet Genome Res

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Our current understanding of the phenotypic consequences and the molecular basis of germline complex chromosomal rearrangements remains fragmentary. Here, we report the clinical and molecular characteristics of 2 women with germline complex X-chromosomal rearrangements. Patient 1 presented with nonsyndromic ovarian dysfunction and hyperthyroidism; patient 2 exhibited various Turner syndrome- associated symptoms including ovarian dysfunction, short stature, and autoimmune hypothyroidism. The genomic abnormalities of the patients were characterized by array-based comparative genomic hybridization, high-resolution karyotyping, microsatellite genotyping, X-inactivation analysis, and bisulfite sequencing. Patient 1 carried a rearrangement of unknown parental origin with a 46,X,der(X)(pter→ p22.1::p11.23→q24::q21.3→q24::p11.4→pter) karyotype, indicative of a catastrophic chromosomal reconstruction due to chromothripsis/chromoanasynthesis. Patient 2 had a paternally derived isochromosome with a 46,X,der(X)(pter→ p22.31::q22.1→q10::q10→q22.1::p22.31→pter) karyotype, which likely resulted from 2 independent, sequential events. Both patients showed completely skewed X inactivation. CpG sites at Xp22.3 were hypermethylated in patient 2. The results indicate that germline complex X-chromosomal rearrangements underlie nonsyndromic ovarian dysfunction and Turner syndrome. Disease-causative mechanisms of these rearrangements likely include aberrant DNA methylation, in addition to X-chromosomal mispairing and haploinsufficiency of genes escaping X inactivation. Notably, our data imply that germline complex X-chromosomal rearrangements are created through both chromothripsis/chromoanasynthesis-dependent and -independent processes.

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“…Mutation of the FOXL2 transcription factor gene, which is located on chromosome 3, is one of the causes of POF (77). Also, BMP15, GDF9, phosphomannomutase 2 (PMM2), FRAXA, and POF1B gene mutations are causes of POF (78)(79)(80). Three enzymatic defects in the steroidogenic pathway cause hypergonadotropic amenorrhea.…”

Section: Etiologymentioning

confidence: 99%

Ovarian aging and premature ovarian failure

Şükür¹,

Kıvançlı²,

Özmen³

2014

J Turkish German Gynecol Assoc

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Review 190 IntroductionThe fertility capacity of women diminishes in parallel with aging. As the level of education of women has increased since the 1960s and they have become more active in working life and have had easier access to contraceptive methods, the need to have children has been postponed to advanced ages by more women (1, 2). As a result of the postponing of maternal age, the number of patients that are not able to get pregnant within 12 months and apply to artificial reproductive technologies (ART) with a female infertility diagnosis has been increased. Among women, the normal process of reproductive aging has great variations; some women continue to be highly fertile in their 40s, while others lose their fertility in their 30s. The process of reproductive aging in women mostly stems from the changes in ovarian function due to chronological aging. Ovaries are affected by natural aging more than all other tissues. Although the reason is not fully understood, endocrine, paracrine, genetic, and metabolic factors are thought to be affecting the decrease in the quality of the follicular pool and oocytes. Ovarian aging resulting in ovarian failure and menopause is an on-going process. Of the early signs of ovarian aging, failure to adequately respond to ovarian stimulation, followed by menstrual irregularity and the loss of follicle functions, can be listed. In accordance with the 'fixed interval hypothesis,' the period between the first menstrual cycle irregularities and menopause is constant-approximately 6 years-and is independent from the age of menopause (3, 4). It is believed that the process of physiological reproductive aging stems from the decrease in the number and quality of the oocytes in the ovarian cortex follicles. This reduction process in the oocytes accelerates with aging and increases especially after the age of 38 with a biphasic pattern (5). The monthly fecundity decreases approximately from the age of 30 (6, 7). The first but inconspicuous sign of reproductive aging process is 2-3 days of shortening of the menstrual cycle (8). Menopausal transition is defined as the stage of ovarian aging and starts approximately at the age of 46 (8). The last menstrual period (menopause) is expected approximately at the age of 51 (range 40-60) and is considered as the physiological sequel of ovarian aging (9, 10). In the last century, in spite of the increase in life expectancy and decrease in menarche age, there has been no significant change in menopausal age. It is thought that genetic control is important and that environmental factors are effective in determining the natural menopausal age (11). Endocrinological Factors in Ovarian AgingDuring reproductive life, the length of a regular menstrual cycle is typically 28 days. The increase in the early follicular FSH level before the onset of menstrual irregularity during the menopausal transition period may point out a decrease in the number follicles. During the menopausal transition period, the menstrual cycles worsen further due to the decrease...

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X Chromosome Genes and Premature Ovarian Failure

Cited by 23 publications

References 47 publications

A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28

A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28

Complex X-Chromosomal Rearrangements in Two Women with Ovarian Dysfunction: Implications of Chromothripsis/Chromoanasynthesis-Dependent and -Independent Origins of Complex Genomic Alterations

Ovarian aging and premature ovarian failure

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