The Genetics of Non-Syndromic Primary Ovarian Insufficiency: A Systematic Review
Several causes for primary ovarian insufficiency (POI) have been described, including iatrogenic and environmental factor, viral infections, chronic disease as well as genetic alterations. The aim of this review was to collect all the ge- netic mutations associated with non-syndromic POI. All stud...
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doaj-a3630df133294c8baa5a83aea227503f2020-11-25T04:09:51ZengRoyan Institute (ACECR), TehranInternational Journal of Fertility and Sterility2008-076X2008-07782019-10-0113316116810.22074/ijfs.2019.559945542The Genetics of Non-Syndromic Primary Ovarian Insufficiency: A Systematic ReviewRoberta Venturella0Valentino De Vivo1Annunziata Carlea2Pietro D’Alessandro3Gabriele Saccone4Bruno Arduino5Francesco Paolo Improda6Daniela Lico7Erika Rania8Carmela De Marco9Giuseppe Viglietto10Fulvio Zullo11Department of Obstetrics and Gynaecology, Magna Graecia University of Catanzaro, Catanzaro, ItalyDepartment of Neuroscience, Reproductive Sciences and Dentistry, School of Medicine, University of Naples Federico II, Naples, ItalyDepartment of Neuroscience, Reproductive Sciences and Dentistry, School of Medicine, University of Naples Federico II, Naples, ItalyDepartment of Neuroscience, Reproductive Sciences and Dentistry, School of Medicine, University of Naples Federico II, Naples, ItalyDepartment of Neuroscience, Reproductive Sciences and Dentistry, School of Medicine, University of Naples Federico II, Naples, ItalyDepartment of Neuroscience, Reproductive Sciences and Dentistry, School of Medicine, University of Naples Federico II, Naples, ItalyDepartment of Neuroscience, Reproductive Sciences and Dentistry, School of Medicine, University of Naples Federico II, Naples, ItalyDepartment of Obstetrics and Gynaecology, Magna Graecia University of Catanzaro, Catanzaro, ItalyDepartment of Obstetrics and Gynaecology, Magna Graecia University of Catanzaro, Catanzaro, ItalyDepartment of Experimental and Clinical Medicine, Magna Graecia University of Catanzaro, Catanzaro, ItalyDepartment of Experimental and Clinical Medicine, Magna Graecia University of Catanzaro, Catanzaro, ItalyDepartment of Obstetrics and Gynaecology, Magna Graecia University of Catanzaro, Catanzaro, ItalySeveral causes for primary ovarian insufficiency (POI) have been described, including iatrogenic and environmental factor, viral infections, chronic disease as well as genetic alterations. The aim of this review was to collect all the ge- netic mutations associated with non-syndromic POI. All studies, including gene screening, genome-wide study and as- sessing genetic mutations associated with POI, were included and analyzed in this systematic review. Syndromic POI and chromosomal abnormalities were not evaluated. Single gene perturbations, including genes on the X chromosome (such as BMP15, PGRMC1 and FMR1) and genes on autosomal chromosomes (such as GDF9, FIGLA, NOBOX, ESR1, FSHR and NANOS3) have a positive correlation with non-syndromic POI. Future strategies include linkage analysis of families with multiple affected members, array comparative genomic hybridization (CGH) for analysis of copy number variations, next generation sequencing technology and genome-wide data analysis. This review showed variability of the genetic factors associated with POI. These findings may help future genetic screening studies on large cohort of women.http://www.ijfs.ir/article_45542_050fbc2afdab94c065ce87fbefe3e2e6.pdfgeneticgynecologymolecularprecision medicine |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Roberta Venturella Valentino De Vivo Annunziata Carlea Pietro D’Alessandro Gabriele Saccone Bruno Arduino Francesco Paolo Improda Daniela Lico Erika Rania Carmela De Marco Giuseppe Viglietto Fulvio Zullo |
spellingShingle |
Roberta Venturella Valentino De Vivo Annunziata Carlea Pietro D’Alessandro Gabriele Saccone Bruno Arduino Francesco Paolo Improda Daniela Lico Erika Rania Carmela De Marco Giuseppe Viglietto Fulvio Zullo The Genetics of Non-Syndromic Primary Ovarian Insufficiency: A Systematic Review International Journal of Fertility and Sterility genetic gynecology molecular precision medicine |
author_facet |
Roberta Venturella Valentino De Vivo Annunziata Carlea Pietro D’Alessandro Gabriele Saccone Bruno Arduino Francesco Paolo Improda Daniela Lico Erika Rania Carmela De Marco Giuseppe Viglietto Fulvio Zullo |
author_sort |
Roberta Venturella |
title |
The Genetics of Non-Syndromic Primary Ovarian Insufficiency: A Systematic Review |
title_short |
The Genetics of Non-Syndromic Primary Ovarian Insufficiency: A Systematic Review |
title_full |
The Genetics of Non-Syndromic Primary Ovarian Insufficiency: A Systematic Review |
title_fullStr |
The Genetics of Non-Syndromic Primary Ovarian Insufficiency: A Systematic Review |
title_full_unstemmed |
The Genetics of Non-Syndromic Primary Ovarian Insufficiency: A Systematic Review |
title_sort |
genetics of non-syndromic primary ovarian insufficiency: a systematic review |
publisher |
Royan Institute (ACECR), Tehran |
series |
International Journal of Fertility and Sterility |
issn |
2008-076X 2008-0778 |
publishDate |
2019-10-01 |
description |
Several causes for primary ovarian insufficiency (POI) have been described, including iatrogenic and environmental factor, viral infections, chronic disease as well as genetic alterations. The aim of this review was to collect all the ge- netic mutations associated with non-syndromic POI. All studies, including gene screening, genome-wide study and as- sessing genetic mutations associated with POI, were included and analyzed in this systematic review. Syndromic POI and chromosomal abnormalities were not evaluated. Single gene perturbations, including genes on the X chromosome (such as BMP15, PGRMC1 and FMR1) and genes on autosomal chromosomes (such as GDF9, FIGLA, NOBOX, ESR1, FSHR and NANOS3) have a positive correlation with non-syndromic POI. Future strategies include linkage analysis of families with multiple affected members, array comparative genomic hybridization (CGH) for analysis of copy number variations, next generation sequencing technology and genome-wide data analysis. This review showed variability of the genetic factors associated with POI. These findings may help future genetic screening studies on large cohort of women. |
topic |
genetic gynecology molecular precision medicine |
url |
http://www.ijfs.ir/article_45542_050fbc2afdab94c065ce87fbefe3e2e6.pdf |
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