{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T16:36:04Z","timestamp":1793723764748,"version":"4.6.1"},"reference-count":23,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2016,11,16]],"date-time":"2016-11-16T00:00:00Z","timestamp":1479254400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","award":["DC000048\u201019"],"award-info":[{"award-number":["DC000048\u201019"]}],"id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","award":["DC000086\u201001"],"award-info":[{"award-number":["DC000086\u201001"]}],"id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004681","name":"Higher Education Commission, Pakistan","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004681","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000703","name":"Action on Hearing Loss","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000703","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["OH\u201093\u2010N\u2010016"],"award-info":[{"award-number":["OH\u201093\u2010N\u2010016"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000770","name":"University of Manchester","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000770","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,2]]},"abstract":"<jats:p>Perrault syndrome (<jats:styled-content style=\"fixed-case\">PS<\/jats:styled-content>) is a genetically heterogeneous disorder characterized by primary ovarian insufficiency (<jats:styled-content style=\"fixed-case\">POI<\/jats:styled-content>) in females and sensorineural hearing loss in males and females. In many <jats:styled-content style=\"fixed-case\">PS<\/jats:styled-content> subjects, causative variants have not been found in the five reported <jats:styled-content style=\"fixed-case\">PS<\/jats:styled-content> genes. The objective of this study was to identify the genetic cause of <jats:styled-content style=\"fixed-case\">PS<\/jats:styled-content> in an extended consanguineous family with six deaf individuals. Whole exome sequencing (<jats:styled-content style=\"fixed-case\">WES<\/jats:styled-content>) was completed on four affected members of a large family, and variants and co\u2010segregation was confirmed by Sanger sequencing. All hearing impaired individuals, including the proband, are homozygous for a pathogenic variant of <jats:italic><jats:styled-content style=\"fixed-case\">CLDN14<\/jats:styled-content><\/jats:italic>, but this only explains the deafness. The <jats:styled-content style=\"fixed-case\">PS<\/jats:styled-content> proband is also homozygous for a frameshift variant (c.1453_1454delGA, p.(<jats:styled-content style=\"fixed-case\">Glu485Lysfs<\/jats:styled-content>*5)) in exon 7 of <jats:italic><jats:styled-content style=\"fixed-case\">SGO2<\/jats:styled-content><\/jats:italic> encoding shugoshin 2, which is the likely cause of her concurrent ovarian insufficiency. In mouse, <jats:italic>Sgol2a<\/jats:italic> encoding shugoshin\u2010like 2a is necessary during meiosis in both sexes to maintain the integrity of the cohesin complex that tethers sister chromatids. Human <jats:italic><jats:styled-content style=\"fixed-case\">SGO2<\/jats:styled-content><\/jats:italic> has not previously been implicated in any disorder, but in this case of <jats:styled-content style=\"fixed-case\">POI<\/jats:styled-content> and perhaps others, it is a candidate for unexplained infertility.<\/jats:p>","DOI":"10.1111\/cge.12867","type":"journal-article","created":{"date-parts":[[2016,9,15]],"date-time":"2016-09-15T09:26:19Z","timestamp":1473931579000},"page":"328-332","source":"Crossref","is-referenced-by-count":53,"title":["Mutations of <i><scp>SGO2<\/scp><\/i> and <i><scp>CLDN14<\/scp><\/i> collectively cause coincidental Perrault syndrome"],"prefix":"10.1111","volume":"91","author":[{"given":"R.","family":"Faridi","sequence":"first","affiliation":[{"name":"Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders National Institutes of Health  Bethesda MD USA"},{"name":"National Centre of Excellence in Molecular Biology University of the Punjab  Lahore Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.U.","family":"Rehman","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders National Institutes of Health  Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.J.","family":"Morell","sequence":"additional","affiliation":[{"name":"Genomics and Computational Biology Core NIDCD, NIH  Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.L.","family":"Friedman","sequence":"additional","affiliation":[{"name":"Internal Medicine Consult Service Clinical Center, National Institutes of Health  Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8694-7710","authenticated-orcid":false,"given":"L.","family":"Demain","sequence":"additional","affiliation":[{"name":"Manchester Centre for Genomic Medicine University of Manchester and Central Manchester University Hospitals, NHS Foundation Trust  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Zahra","sequence":"additional","affiliation":[{"name":"National Centre of Excellence in Molecular Biology University of the Punjab  Lahore Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.A.","family":"Khan","sequence":"additional","affiliation":[{"name":"National Centre of Excellence in Molecular Biology University of the Punjab  Lahore Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Tohlob","sequence":"additional","affiliation":[{"name":"Manchester Centre for Genomic Medicine University of Manchester and Central Manchester University Hospitals, NHS Foundation Trust  Manchester UK"},{"name":"Clinical Pathology Department, Faculty of Medicine Mansoura University  Mansoura Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.Z.","family":"Assir","sequence":"additional","affiliation":[{"name":"Allama Iqbal Medical College University of Health Sciences  Lahore Pakistan"},{"name":"Shaheed Zulfiqar Ali Bhutto Medical University, Pakistan Institute of Medical Sciences  Islamabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Beaman","sequence":"additional","affiliation":[{"name":"Manchester Centre for Genomic Medicine University of Manchester and Central Manchester University Hospitals, NHS Foundation Trust  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.N.","family":"Khan","sequence":"additional","affiliation":[{"name":"National Centre of Excellence in Molecular Biology University of the Punjab  Lahore Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.G.","family":"Newman","sequence":"additional","affiliation":[{"name":"Manchester Centre 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