Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B

Bione, Silvia; Rizzolio, Flavio; Sala, Cinzia; Ricotti, Roberta; Goegan, Mara; Manzini, M. Chiara; Battaglia, Raffaella; Marozzi, Anna; Vegetti, Walter; Dalprà, Leda; Crosignani, Pier Giorgio; Ginelli, Enrico; Nappi, Rossella E.; Bernabini, Sara; Bruni, Vincenzina; Torricelli, Federica; Zuffardi, Orsetta; Toniolo, Daniela

doi:10.1093/humrep/deh502

Cited by 93 publications

(79 citation statements)

References 33 publications

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“…It is well known that the forehand expression and proper coordination of the genes are fundamental for the normal growth and development of the ovary 23 . Polymorphisms important for PPOI are mostly unknown despite of the pathogenic defects identifi ed in some candidate genes 24,25 . Th erefore, in most PPOI cases, no clear etiologic factors were found, so they were classifi ed as idiopathic PPOI.…”

Section: Structural Alterations Of Chromosomementioning

confidence: 99%

Genetic Etiology of Primary Premature Ovarian Insufficiency

Franić-Ivanišević¹,

Franić

Ivović³

et al. 2016

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SUMMARY -Primary premature ovarian insuffi ciency (PPOI) is characterized by hypergonadotropic amenorrhea and hypoestrogenism in women under 40 years of age. PPOI incidence is 1:10,000 in women aged 18-25, 1:1000 in women aged 25-30 and 1:100 in women aged 35-40. In 10%-28% of cases, PPOI causes primary and in 4%-18% secondary amenorrhea. Th e process is a consequence of accelerated oocyte atresia, diminished number of germinated cells, and central nervous system aging. Specifi c genes are responsible for the control of oocyte number undergoing the ovulation process and the time to cessation of the reproductive function. A positive family history of PPOI is found in 15% of women with PPOI, indicating the existing genetic etiology. Primary POI comprises genetic aberrations linked to chromosome X (monosomy, trisomy, translocation, deletion) or to autosomal chromosome. Secondary POI implies surgical removal of ovaries, chemotherapy and radiotherapy, and infections. Diagnostic criteria include follicle stimulating hormone level >40 IU/L and estradiol level <50 pmol/L.

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Section: Structural Alterations Of Chromosomementioning

confidence: 99%

Genetic Etiology of Primary Premature Ovarian Insufficiency

Franić-Ivanišević¹,

Franić

Ivović³

et al. 2016

acc

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“…Identification of deletions and translocations in POF1 and POF2 regions has suggested several POF-candidate genes, such as [36][37][38], although very few mutations have actually been detected in these loci [39,40].…”

Section: Candidate Genes On the X Chromosomementioning

confidence: 99%

Insight into the Genomics of Premature Ovarian Failure

Stigliani¹

2013

J Mol Genet Med

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Primary Ovarian Failure (POF) is an ovarian defect characterized by the premature depletion of ovarian follicles. It causes infertility in ~1% of women <40 years of age and it has important health consequences for affected patients. POF is a heterogeneous disease, which can develop as a result of a broad variety of pathogenic mechanisms including genetic, autoimmune and iatrogenic causes. However, the mechanisms that cause ovarian dysfunction are poorly understood. Focus on genetic component of the disease has revealed the existence of several causal genetic defects, thus indicating that in addition to some monogenic forms, POF may frequently be a multifactorial disease involving several gene abnormalities and chromosome aberrations. Moreover, most recent studies have highlighted that epigenetic mechanisms may give an additional contribution to POF pathogenesis. This review gives a picture of the state of the art of the complex genetic and epigenetic defects associated with POF, being it clear that a deep comprehension of the molecular etiology of POF may in future early identify those women with higher risk of POF.

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“…The 'position effect' is a mechanism involving the deletion or translocation of regulatory domains to different position on the genome that might cause changes in gene transcription. Transcriptional characterization of breakpoint regions in O40 balanced translocations led to the identification of five genes interrupted by translocations: the XPNPEP2 (MIM *300145) gene in Xq25 (Prueitt et al 2000), the POF1B (MIM *300603) gene in Xq21.2, the DACH2 (MIM *300608) gene in Xq21.3 (Bione et al 2004), the CHM (MIM *300390) gene in Xq21. 2 (van Bokhoven et al 1994), and the DIAPH2 (MIM *300108) gene in Xq22 (Bione et al 1998).…”

Section: Syndromic Poimentioning

confidence: 99%

Genes involved in human premature ovarian failure

Persani

Rossetti

Cacciatore

2010

Journal of Molecular Endocrinology

211

108

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Premature ovarian failure (POF) is an ovarian defect characterized by the premature depletion of ovarian follicles before the age of 40 years, representing one major cause of female infertility. POF relevance is continuously growing because women tend to conceive ever more frequently in their thirties and forties. POF can present very early with a pubertal defect. More frequently, it is the end stage of an occult process (primary ovarian insufficiency, POI) affecting w1-2% of under-40 women. POI is a heterogeneous disease caused by a variety of mechanisms. Though the underlying cause remains unexplained in the majority of cases, various data indicate that POI has a strong genetic component. These data include the existence of several causal genetic defects in humans, experimental and natural models, as well as the frequent familiarity. The variable expressivity of POI defect in women of the same family may indicate that, in addition to some monogenic forms, POI may frequently be considered as a multifactorial defect resulting from the contribution of several predisposing alleles. The X chromosome-linked defects play a major role among the presently known causal defects. Here, we review the principal X-linked and autosomal genes involved in syndromic and nonsyndromic forms of POI with the wish that this list will soon become upgraded because of the discovery of novel contributing mechanisms. A better understanding of POI pathogenesis will indeed allow the construction of tests able to predict the age of menopause in women at higher risk of POI.

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Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B

Abstract: Our findings could not demonstrate any involvement of POF1B, but suggest that rare mutations in the DACH2 gene may have a role in the POF phenotype.

Cited by 93 publications

References 33 publications

Genetic Etiology of Primary Premature Ovarian Insufficiency

Genetic Etiology of Primary Premature Ovarian Insufficiency

Insight into the Genomics of Premature Ovarian Failure

Genes involved in human premature ovarian failure

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