{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T16:04:10Z","timestamp":1791561850303,"version":"4.3.4"},"reference-count":23,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,10,19]],"date-time":"2020-10-19T00:00:00Z","timestamp":1603065600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Variants of tubulin beta 8 class VIII (<jats:italic>TUBB8<\/jats:italic>) have been shown to be associated with female infertility characterized by oocyte or embryonic defects. To further investigate the mutational spectrum of <jats:italic>TUBB8<\/jats:italic> and the prevalence of variants, we performed Sanger sequencing of <jats:italic>TUBB8<\/jats:italic> on a total of 115 infertile females who had undergone repeated in vitro fertilization cycles with oocyte or embryonic defects and 200 healthy controls. A total of 31 variants which were absent from the controls were identified in 36 unrelated individuals, accounting for a large proportion of this cohort (31.3%). All of the variants including heterozygous\/homozygous missense variants and a heterozygous frameshift insertion variant were at conserved sites and predicted to be deleterious. Besides, these variants had diverse phenotypic effects, including not only oocyte maturation arrest, fertilization failure, and early embryonic arrest, but also multi\u2010pronuclei (MPN) formation, which is a new phenotype associated with <jats:italic>TUBB8<\/jats:italic> variants. Overall, this study reveals a large number of variants of the <jats:italic>TUBB8<\/jats:italic> gene in infertile females with oocyte or embryonic defects. Our results not only broaden the mutational and phenotypic spectra of <jats:italic>TUBB8<\/jats:italic> variants, but also further confirm the critical role of TUBB8 in oocyte maturation, fertilization, and early embryonic development.<\/jats:p>","DOI":"10.1111\/cge.13855","type":"journal-article","created":{"date-parts":[[2020,10,3]],"date-time":"2020-10-03T09:41:03Z","timestamp":1601718063000},"page":"208-214","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":46,"title":["Mutation analysis of tubulin beta 8 class <scp>VIII<\/scp> in infertile females with oocyte or embryonic defects"],"prefix":"10.1111","volume":"99","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0811-7989","authenticated-orcid":false,"given":"Ping","family":"Yang","sequence":"first","affiliation":[{"name":"Center for Reproductive Medicine, Cheeloo College of Medicine Shandong University, Key laboratory of Reproductive Endocrinology of Ministry of Education, Shandong Key Laboratory of Reproductive Medicine, Shandong Provincial Clinical Research Center for Reproductive Health  Jinan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Changjian","family":"Yin","sequence":"additional","affiliation":[{"name":"Center for Reproductive Medicine, Cheeloo College of Medicine Shandong University, Key laboratory of Reproductive Endocrinology of Ministry of Education, Shandong Key Laboratory of Reproductive Medicine, Shandong Provincial Clinical Research Center for Reproductive Health  Jinan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei","family":"Li","sequence":"additional","affiliation":[{"name":"Center for Reproductive Medicine, Cheeloo College of Medicine Shandong University, Key laboratory of Reproductive Endocrinology of Ministry of Education, Shandong Key Laboratory of Reproductive Medicine, Shandong Provincial Clinical Research Center for Reproductive Health  Jinan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuiying","family":"Ma","sequence":"additional","affiliation":[{"name":"Center for Reproductive Medicine, Cheeloo College of Medicine Shandong University, Key laboratory of Reproductive Endocrinology of Ministry of Education, Shandong Key Laboratory of Reproductive Medicine, Shandong Provincial Clinical Research Center for Reproductive Health  Jinan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yongzhi","family":"Cao","sequence":"additional","affiliation":[{"name":"Center for Reproductive Medicine, Cheeloo College of Medicine Shandong University, Key laboratory of Reproductive Endocrinology of Ministry of Education, Shandong Key Laboratory of Reproductive Medicine, Shandong Provincial Clinical Research Center for Reproductive Health  Jinan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Changming","family":"Zhang","sequence":"additional","affiliation":[{"name":"Center 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