{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T21:11:38Z","timestamp":1790284298386,"version":"4.1.0"},"reference-count":68,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2025,8,22]],"date-time":"2025-08-22T00:00:00Z","timestamp":1755820800000},"content-version":"vor","delay-in-days":1218,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2022,4,22]],"date-time":"2022-04-22T00:00:00Z","timestamp":1650585600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["rep.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,6,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Genetic testing is becoming increasingly required at almost every stage of failed female reproduction\/infertility. Nonetheless, clinical evidence for the majority of identified gene\u2013disease relationships is ill-defined, thus leading to difficult gene variant interpretation and poor translation of existing knowledge into clinics. We aimed to identify the genes that have ever been implicated in monogenic female reproductive failure in humans and to classify the identified gene\u2013disease relationship pairs using a standardized clinical validity assessment. A PubMed search following PRISMA guidelines was conducted on 20 September 2021 aiming to identify studies pertaining to genetic causes of phenotypes of female reproductive failure. The clinical validity of identified gene\u2013disease pairs was assessed using standardized criteria, counting whether sufficient genetic and experimental evidence has been accumulated to consider a single gene \u2018characterized\u2019 for a single Mendelian disease. In total, 1256 articles were selected for the data extraction; 183 unique gene\u2013disease pairs were classified spanning the following phenotypes: hypogonadotropic hypogonadism, ovarian dysgenesis, premature ovarian failure\/insufficiency, ovarian hyperstimulation syndrome, empty follicle syndrome, oocyte maturation defect, fertilization failure, early embryonic arrest, recurrent hydatidiform mole, adrenal disfunction and Mullerian aplasia. Twenty-four gene\u2013disease pairs showed definitive evidence, 36 \u2013 strong, 19 \u2013 moderate, 81 \u2013 limited and 23 \u2013 showed no evidence. Here, we provide comprehensive, systematic and timely information on the genetic causes of female infertility. Our classification of genetic causes of female reproductive failure will facilitate the composition of up-to-date guidelines on genetic testing in female reproduction, the development of diagnostic gene panels and the advancement of reproductive decision-making.<\/jats:p>","DOI":"10.1530\/rep-21-0486","type":"journal-article","created":{"date-parts":[[2022,4,22]],"date-time":"2022-04-22T06:24:35Z","timestamp":1650608675000},"page":"351-363","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-11","source":"Crossref","is-referenced-by-count":26,"title":["A systematic review and standardized clinical validity assessment of genes involved in female reproductive failure"],"prefix":"10.1093","volume":"163","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0413-1481","authenticated-orcid":false,"given":"Ludmila","family":"Volozonoka","sequence":"first","affiliation":[{"name":"Scientific Laboratory of Molecular Genetics , Riga Stradins University, Riga, Latvia"},{"name":"E. Gulbja Laboratory , Riga, LV-1006, Latvia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Miskova","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology , Riga Stradins University, Riga, Latvia"},{"name":"Riga Maternity Hospital , Riga, LV-1013, Latvia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liene","family":"Kornejeva","sequence":"additional","affiliation":[{"name":"Riga Maternity Hospital , Riga, LV-1013, Latvia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inga","family":"Kempa","sequence":"additional","affiliation":[{"name":"Scientific Laboratory of Molecular Genetics , Riga Stradins University, Riga, Latvia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronika","family":"Bargatina","sequence":"additional","affiliation":[{"name":"E. Gulbja Laboratory , Riga, LV-1006, Latvia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"Gailite","sequence":"additional","affiliation":[{"name":"Scientific Laboratory of Molecular Genetics , Riga Stradins University, Riga, Latvia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2022,4,22]]},"reference":[{"key":"2026010712074512900_bib1","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1016\/j.gde.2020.05.036","article-title":"Gene constraint and genotype\u2013phenotype correlations in neurodevelopmental disorders","volume":"65","author":"Betancur","year":"2020","journal-title":"Current Opinion in Genetics and Development"},{"key":"2026010712074512900_bib2","doi-asserted-by":"publisher","first-page":"2418","DOI":"10.1056\/NEJMra1312543","article-title":"Diagnostic clinical genome and exome sequencing","volume":"370","author":"Biesecker","year":"2014","journal-title":"New England Journal 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