Mutational analysis of the homeobox region of the human NOBOX gene in Japanese women who exhibit premature ovarian failure

Zhao, Xiaohua; Suzumori, Nobuhiro; Yamaguchi, Masaru; Suzumori, Kaoru

doi:10.1016/j.fertnstert.2004.12.031

Cited by 41 publications

(21 citation statements)

References 10 publications

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“…In non-syndromic forms, rare mutations in the FSH have been described, (1,(7)(8)(9), and our group has previously identified homozygous or compound heterozygous mutations of the FSHR gene in three POF patients (10)(11)(12). Some variants of other genes, such as BMP15, GDF9, and NOBOX and more recently some mutations of NR5A1 have also been reported (13)(14)(15)(16)(17)(18). Nevertheless, mutations affecting all of these genes account for a small minority of all cases of ovarian dysfunction, which suggest that there are additional factors that remain to be identified.…”

Section: Introductionmentioning

confidence: 89%

Phenotyping and genetic studies of 357 consecutive patients presenting with premature ovarian failure

Bachelot

Rouxel²,

Massin³

et al. 2009

European Journal of Endocrinology

128

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Objective: Premature ovarian failure (POF) encompasses a heterogeneous spectrum of conditions, with phenotypic variability among patients. The etiology of POF remains unknown in most cases. We performed a global phenotyping of POF women with the aim of better orienting attempts at an etiological diagnosis. Design and methods: We performed a mixed retrospective and prospective study of clinical, biological, histological, morphological, and genetic data relating to 357 consecutive POF patients between 1997 and 2008. The study was conducted at a reproductive endocrinology referral center. Results: Seventy-six percent of the patients presented with normal puberty and secondary amenorrhea. Family history was present in 14% of the patients, clinical and/or biological autoimmunity in 14.3%. Fifty-six women had a fluctuating form of POF. The presence of follicles was suggested at ultrasonography in 50% of the patients, and observed in 29% at histology; the negative predictive value of the presence of follicles at ultrasonography was 77%. Bone mineral density alterations were found in 58% of the women. Eight patients had X chromosomal abnormalities other than Turner's syndrome, eight other patients evidenced FMR1 pre-mutation. Two other patients had autoimmune polyendocrine syndrome type 2 and 1. Conclusion: A genetic cause of POF was identified in 25 patients, i.e. 7% of the whole cohort. POF etiology remains most often undiscovered. Novel strategies of POF phenotyping are in such content mandatory to improve the rate of POF patients for whom etiology is identified.

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Section: Introductionmentioning

confidence: 89%

Phenotyping and genetic studies of 357 consecutive patients presenting with premature ovarian failure

Bachelot

Rouxel²,

Massin³

et al. 2009

European Journal of Endocrinology

128

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show abstract

“…Other oocyte-specific factors -FOXL2 (forkhead box protein L2) and NOBOX (newborn ovary homeo box-encoding gene) -are important for transition of primordial follicles to primary follicles. Interestingly, mutations in FOXL2 and in the homeobox domain of the NOBOX gene are associated with POF in humans [69][70][71], although conflicting results have been reported by other studies [72,73].…”

Section: Autosomal Candidate Genes Of Pofmentioning

confidence: 93%

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 similarity between mouse and human NOBOX expression pattern suggests that the NOBOX protein also likely plays an essential role in human folliculogenesis. A small study of 30 Japanese women with POF examined whether mutations within the homeodomain of NOBOX can cause ovarian failure in humans [Zhao et al, 2005]. This study did not reveal mutations in the homeodomain region in this population of Japanese women, but was limited in the sample size as well as the region of the NOBOX gene that was sequenced [Zhao et al, 2005].…”

Section: Autosomal Genes and Pofmentioning

confidence: 99%

Recent Developments in Identifying Genetic Determinants of Premature Ovarian Failure

Skillern

Rajkovic

2008

Sex Dev

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Premature ovarian failure (POF) is defined as cessation of menstruation and associated elevation of gonadotropin levels (FSH >40 IU/l) as a result of decreased ovarian function prior to the age of 40. An estimated 1% of the population is affected before age 40, with 0.1% affected prior to age 30. Although the causes for POF are many, the majority of POF cases have idiopathic etiologies. In an effort to investigate potential mechanisms of the disease, genetic determinants of POF have received particular attention in recent years. Transgenic mouse models have been instrumental in the discovery of novel genetic determinants of gonadal development and failure and have informed research identifying mutations in women with POF. Here, we review recent developments in identifying genetic determinants of POF.

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Mutational analysis of the homeobox region of the human NOBOX gene in Japanese women who exhibit premature ovarian failure

Cited by 41 publications

References 10 publications

Phenotyping and genetic studies of 357 consecutive patients presenting with premature ovarian failure

Phenotyping and genetic studies of 357 consecutive patients presenting with premature ovarian failure

Insight into the Genomics of Premature Ovarian Failure

Recent Developments in Identifying Genetic Determinants of Premature Ovarian Failure

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