{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T04:23:52Z","timestamp":1779251032253,"version":"3.51.4"},"reference-count":66,"publisher":"The Endocrine Society","issue":"1","license":[{"start":{"date-parts":[[2021,8,17]],"date-time":"2021-08-17T00:00:00Z","timestamp":1629158400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["216362\/Z\/19\/Z"],"award-info":[{"award-number":["216362\/Z\/19\/Z"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"name":"J.C.A.","award":["209328\/Z\/17\/Z"],"award-info":[{"award-number":["209328\/Z\/17\/Z"]}]},{"name":"M.T.D."},{"name":"J.C.A.","award":["V2518"],"award-info":[{"award-number":["V2518"]}]},{"name":"Great Ormond Street Hospital Children\u2019s Charity"},{"DOI":"10.13039\/501100000272","name":"National Institute for Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Great Ormond Street Hospital Biomedical Research Centre","award":["IS-BRC-1215-20012"],"award-info":[{"award-number":["IS-BRC-1215-20012"]}]},{"name":"Joint MRC","award":["MR\/R006237\/1"],"award-info":[{"award-number":["MR\/R006237\/1"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Primary ovarian insufficiency (POI) affects 1% of women and is associated with significant medical consequences. A genetic cause for POI can be found in up to 30% of women, elucidating key roles for these genes in human ovary development.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>We aimed to identify the genetic mechanism underlying early-onset POI in 2 sisters from a consanguineous pedigree.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Genome sequencing and variant filtering using an autosomal recessive model was performed in the 2 affected sisters and their unaffected family members. Quantitative reverse transcriptase PCR (qRT-PCR) and RNA sequencing were used to study the expression of key genes at critical stages of human fetal gonad development (Carnegie Stage 22\/23, 9 weeks post conception (wpc), 11 wpc, 15\/16 wpc, 19\/20 wpc) and in adult tissue.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Only 1 homozygous variant cosegregating with the POI phenotype was found: a single nucleotide substitution in zinc finger SWIM-type containing 7 (ZSWIM7), NM_001042697.2: c.173C\u2005&amp;gt;\u2005G; resulting in predicted loss-of-function p.(Ser58*). qRT-PCR demonstrated higher expression of ZSWIM7 in the 15\/16 wpc ovary compared with testis, corresponding to peak meiosis in the fetal ovary. RNA sequencing of fetal gonad samples showed that ZSWIM7 has a similar temporal expression profile in the developing ovary to other homologous recombination genes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Main conclusions<\/jats:title><jats:p>Disruption of ZSWIM7 is associated with POI in humans. ZSWIM7 is likely to be important for human homologous recombination; these findings expand the range of genes associated with POI in women.<\/jats:p><\/jats:sec>","DOI":"10.1210\/clinem\/dgab597","type":"journal-article","created":{"date-parts":[[2021,8,17]],"date-time":"2021-08-17T14:23:55Z","timestamp":1629210235000},"page":"e254-e263","source":"Crossref","is-referenced-by-count":26,"title":["<i>ZSWIM7<\/i>Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency"],"prefix":"10.1210","volume":"107","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4289-0852","authenticated-orcid":false,"given":"Sin\u00e9ad M","family":"McGlacken-Byrne","sequence":"first","affiliation":[{"name":"Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK"},{"name":"Institute for Women\u2019s Health, University College London, London WC1N 1EH, 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