ArticleMolecular cytogenetics2012
Investigating the role of X chromosome breakpoints in premature ovarian failure.
Article in Molecular cytogenetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- Pharmacogenomic studies of fertility outcomes in pediatric cancer survivors - A systematic review.Clinical and translational science · 2024Pooled it
- Screening of premature ovarian insufficiency associated genes in Hungarian patients with next generation sequencing.BMC medical genomics · 2024Article
- Exome Sequencing to Identify Novel Variants Associated with Secondary Amenorrhea and Premature Ovarian Insufficiency (POI) in Saudi Women.Biomedicines · 2024Article
- Comprehensive analysis of three female patients with different types of X/Y translocations and literature review.Molecular cytogenetics · 2023Article
- Cognitive Decline in Early and Premature Menopause.International journal of molecular sciences · 2023Review
- Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency.Journal of assisted reproduction and genetics · 2022Article
- Article
- Causal and Candidate Gene Variants in a Large Cohort of Women With Primary Ovarian Insufficiency.The Journal of clinical endocrinology and metabolism · 2022Observational
- Utilization of Whole Exome Sequencing in Non-Syndromic Premature Ovarian Failure: Ficolin-3 Gene Mutation in an Iranian FamilyIranian biomedical journal · 2021Article
- Successful pregnancy after prenatal diagnosis by NGS for a carrier of complex chromosome rearrangements.Reproductive biology and endocrinology : RB&E · 2020Article
- 22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency.Journal of human genetics · 2018Article
- Array-CGH diagnosis in ovarian failure: identification of new molecular actors for ovarian physiology.Journal of ovarian research · 2016Article
- Early menopause: A hazard to a woman's health.The Indian journal of medical research · 2016Review
- Identification of a duplication within the GDF9 gene and novel candidate genes for primary ovarian insufficiency (POI) by a customized high-resolution array comparative genomic hybridization platform.Human reproduction (Oxford, England) · 2014Article
- Premature ovarian failure: a critical condition in the reproductive potential with various genetic causes.International journal of fertility & sterility · 2014Review
- Genomic markers of ovarian reserve.Seminars in reproductive medicine · 2013Review
- Instability in X chromosome inactivation patterns in AMD: a new risk factor?Medical hypothesis, discovery & innovation ophthalmology journal · 2013Review
- Clinical correlation between premature ovarian failure and a chromosomal anomaly in a 22-year-old Caucasian woman: a case report.Journal of medical case reports · 2012Article
Corrections and comments
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Authors and funding
16 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The importance of the genetic factor in the aetiology of premature ovarian failure (POF) is emphasized by the high percentage of familial cases and X chromosome abnormalities account for 10% of chromosomal aberrations. In this study, we report the detailed analysis of 4 chromosomal abnormalities involving the X chromosome and associated with POF that were detected during a screening of 269 affected women. Conventional and molecular cytogenetics were valuable tools for locating the breakpoint regions and thus the following karyotypes were defined: 46,X,der(X)t(X;19)(p21.1;q13.42)mat, 46,X,t(X;2)(q21.33;q14.3)dn, 46,X,der(X)t(X;Y)(q26.2;q11.223)mat and 46,X,t(X;13)(q13.3;q31)dn. A bioinformatic analysis of the breakpoint regions identified putative candidate genes for ovarian failure near the breakpoint regions on the X chromosome or on autosomes that were involved in the translocation event. HS6ST1, HS6ST2 and MATER genes were identified and their functions and a literature review revealed an interesting connection to the POF phenotype. Moreover, the 19q13.32 locus is associated with the age of onset of the natural menopause. These results support the position effect of the breakpoint on flanking genes, and cytogenetic techniques, in combination with bioinformatic analysis, may help to improve what is known about this puzzling disorder and its diagnostic potential.
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Registered trials
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