{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T15:30:22Z","timestamp":1787239822960,"version":"build-2736575974"},"reference-count":52,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2022,11,14]],"date-time":"2022-11-14T00:00:00Z","timestamp":1668384000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000925","name":"Australian National Health and Medical Research Council","doi-asserted-by":"publisher","award":["1074258"],"award-info":[{"award-number":["1074258"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"Australian National Health and Medical Research Council","doi-asserted-by":"publisher","award":["1054432"],"award-info":[{"award-number":["1054432"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"Australian National Health and Medical Research Council","doi-asserted-by":"publisher","award":["1062854"],"award-info":[{"award-number":["1062854"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"NHMRC fellowships","doi-asserted-by":"publisher","award":["1074258"],"award-info":[{"award-number":["1074258"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"NHMRC fellowships","doi-asserted-by":"publisher","award":["1054432"],"award-info":[{"award-number":["1054432"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"NHMRC fellowships","doi-asserted-by":"publisher","award":["1062854"],"award-info":[{"award-number":["1062854"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Suzi Carp postdoctoral scholarship","award":["1074258"],"award-info":[{"award-number":["1074258"]}]},{"name":"Suzi Carp postdoctoral scholarship","award":["1054432"],"award-info":[{"award-number":["1054432"]}]},{"name":"Suzi Carp postdoctoral scholarship","award":["1062854"],"award-info":[{"award-number":["1062854"]}]},{"name":"Victorian government\u2019s operational infrastructure support program","award":["1074258"],"award-info":[{"award-number":["1074258"]}]},{"name":"Victorian government\u2019s operational infrastructure support program","award":["1054432"],"award-info":[{"award-number":["1054432"]}]},{"name":"Victorian government\u2019s operational infrastructure support program","award":["1062854"],"award-info":[{"award-number":["1062854"]}]},{"name":"Royal Children\u2019s Hospital Foundation","award":["1074258"],"award-info":[{"award-number":["1074258"]}]},{"name":"Royal Children\u2019s Hospital Foundation","award":["1054432"],"award-info":[{"award-number":["1054432"]}]},{"name":"Royal Children\u2019s Hospital Foundation","award":["1062854"],"award-info":[{"award-number":["1062854"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>The mitochondrial ribosome is critical to mitochondrial protein synthesis. Defects in both the large and small subunits of the mitochondrial ribosome can cause human disease, including, but not limited to, cardiomyopathy, hypoglycaemia, neurological dysfunction, sensorineural hearing loss and premature ovarian insufficiency (POI). POI is a common cause of infertility, characterised by elevated follicle-stimulating hormone and amenorrhea in women under the age of 40. Here we describe a patient with POI, sensorineural hearing loss and Hashimoto\u2019s disease. The co-occurrence of POI with sensorineural hearing loss indicates Perrault syndrome. Whole exome sequencing identified two compound heterozygous variants in mitochondrial ribosomal protein 7 (MRPS7), c.373A&gt;T\/p.(Lys125*) and c.536G&gt;A\/p.(Arg179His). Both novel variants are predicted to be pathogenic via in-silico algorithms. Variants in MRPS7 have been described only once in the literature and were identified in sisters, one of whom presented with congenital sensorineural hearing loss and POI, consistent with our patient phenotype. The other affected sister had a more severe disease course and died in early adolescence due to liver and renal failure before the reproductive phenotype was known. This second independent report validates that variants in MRPS7 are a cause of syndromic POI\/Perrault syndrome. We present this case and review the current evidence supporting the integral role of the mitochondrial ribosome in supporting ovarian function.<\/jats:p>","DOI":"10.3390\/genes13112113","type":"journal-article","created":{"date-parts":[[2022,11,15]],"date-time":"2022-11-15T02:28:58Z","timestamp":1668479338000},"page":"2113","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency"],"prefix":"10.3390","volume":"13","author":[{"given":"Brianna L.","family":"Kline","sequence":"first","affiliation":[{"name":"Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital, Melbourne, VIC 3052, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0593-0261","authenticated-orcid":false,"given":"Sylvie","family":"Jaillard","sequence":"additional","affiliation":[{"name":"IRSET (Institut de Recherche en Sant\u00e9, Environnement et Travail), INSERM\/EHESP\/Univ Rennes\/CHU Rennes\u2013UMR_S 1085, F-35000 Rennes, France"},{"name":"CHU Rennes, Service de Cytog\u00e9n\u00e9tique et Biologie Cellulaire, F-35033 Rennes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrina M.","family":"Bell","sequence":"additional","affiliation":[{"name":"Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital, Melbourne, VIC 3052, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shabnam","family":"Bakhshalizadeh","sequence":"additional","affiliation":[{"name":"Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital, Melbourne, VIC 3052, Australia"},{"name":"Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gorjana","family":"Robevska","sequence":"additional","affiliation":[{"name":"Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital, Melbourne, VIC 3052, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jocelyn","family":"van den Bergen","sequence":"additional","affiliation":[{"name":"Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital, Melbourne, VIC 3052, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00e9r\u00f4me","family":"Dulon","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Reproductive Medicine, AP-HP, Sorbonne University Medicine, Centre de R\u00e9f\u00e9rence des Maladies Endocriniennes Rares de la Croissance et du D\u00e9veloppement, Centre des Pathologies Gyn\u00e9cologiques Rares, 75231 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6840-3186","authenticated-orcid":false,"given":"Katie L.","family":"Ayers","sequence":"additional","affiliation":[{"name":"Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital, Melbourne, VIC 3052, Australia"},{"name":"Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8431-0641","authenticated-orcid":false,"given":"John","family":"Christodoulou","sequence":"additional","affiliation":[{"name":"Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital, Melbourne, VIC 3052, Australia"},{"name":"Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9700-7898","authenticated-orcid":false,"given":"Michel C.","family":"Tchan","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine, Westmead Hospital, Sydney, NSW 2145, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Touraine","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Reproductive Medicine, AP-HP, Sorbonne University Medicine, Centre de R\u00e9f\u00e9rence des Maladies Endocriniennes Rares de la Croissance et du D\u00e9veloppement, Centre des Pathologies Gyn\u00e9cologiques Rares, 75231 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew H.","family":"Sinclair","sequence":"additional","affiliation":[{"name":"Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital, Melbourne, VIC 3052, Australia"},{"name":"Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6380-5100","authenticated-orcid":false,"given":"Elena J.","family":"Tucker","sequence":"additional","affiliation":[{"name":"Murdoch Children\u2019s Research Institute, Royal Children\u2019s Hospital, Melbourne, VIC 3052, Australia"},{"name":"Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,11,14]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1210\/er.2016-1047","article-title":"Premature Ovarian Insufficiency: New Perspectives on Genetic Cause and Phenotypic Spectrum","volume":"37","author":"Tucker","year":"2016","journal-title":"Endocr. 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