Identification novel mutations in TUBB8 in female infertility and a novel phenotype of large polar body in oocytes with
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GAMETE BIOLOGY
Identification novel mutations in TUBB8 in female infertility and a novel phenotype of large polar body in oocytes with TUBB8 mutations Lin Zhao 1 & Yichun Guan 2 & Wenjing Wang 1 & Biaobang Chen 3 & Shiru Xu 4 & Ling Wu 5 & Zheng Yan 5 & Bin Li 5 & Jing Fu 6 & Rong Shi 7 & Juanzi Shi 7 & Jing Du 3 & Qiaoli Li 1 & Zhihua Zhang 1 & Jian Mu 1 & Zhou Zhou 1 & Jie Dong 1 & Li Jin 1 & Lin He 8 & Xiaoxi Sun 6 & Yanping Kuang 5 & Lei Wang 1,9,10 & Qing Sang 1,9 Received: 10 March 2020 / Accepted: 14 May 2020 # Springer Science+Business Media, LLC, part of Springer Nature 2020
Abstract Purpose We aimed to identify novel variants in TUBB8 and corresponding new abnormal phenotypes in oocytes/fertilization/ embryonic development responsible for female infertility. Methods Sanger sequencing of TUBB8 was performed in infertile women with abnormalities in oocyte maturation or embryonic development. The effects of the variants were evaluated in patients’ oocytes by morphological observations and immunofluorescence. Results We identified 34 novel variants of TUBB8 in 51 patients who were diagnosed with abnormalities in oocyte maturation or early embryonic development. We found a novel phenotype in which large polar bodies were present in three independent patients possibly associated with a recurrent variant. Moreover, we identified a novel type of TUBB8 variant consisting of an inframe deletion-insertion, which has not been previously reported. Conclusions Our present study identified 34 novel variants in TUBB8 in 51 patients. These patients show oocyte maturation arrest, oocytes with large polar body, fertilization failure, early embryonic arrest or embryonic implantation failure. These results expand the kinds of variants and phenotypic spectrum of TUBB8 variants with regard to female infertility. Keywords Female infertility . TUBB8 . Novel variants . Novel phenotype
Lin Zhao and Yichun Guan contributed equally to this work. Electronic supplementary material The online version of this article (https://doi.org/10.1007/s10815-020-01830-6) contains supplementary material, which is available to authorized users. * Lei Wang [email protected]
4
Fertility Center, Shenzhen Zhongshan Urology Hospital, Shenzhen, Guangdong, China
* Qing Sang [email protected]
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Reproductive Medicine Center, Shanghai Ninth Hospital, Shanghai Jiao Tong University, Shanghai, China
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Shanghai Ji Ai Genetics and IVF Institute, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, China
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Reproductive Medicine Center, Shaanxi Maternal and Child Care Service Center, Shaanxi, China
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Bio-X Center, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Ministry of Education, Shanghai Jiao Tong University, Shanghai, China
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Zhuhai Fudan Innovation Institute, Zhuhai, Guangdong, China
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Shanghai Center for Women and Children’s Health, Shanghai, China
1
Institute of Pediatrics, Children’s Hospital of Fudan University and the Shanghai Key Laboratory of Medical Epigenetics, the Interna
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