鉴定女性不孕中 TUBB8 的新突变，并发现 TUBB8 突变的卵母细胞中大型极体的新表型。
Identification novel mutations in TUBB8 in female infertility and a novel phenotype of large polar body in oocytes with TUBB8 mutations.
机构信息
Institute of Pediatrics, Children's Hospital of Fudan University and the Shanghai Key Laboratory of Medical Epigenetics, the International Co-laboratory of Medical Epigenetics and Metabolism, Ministry of Science and Technology and Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, 200032, China.
Department of Reproductive Medicine, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.
出版信息
J Assist Reprod Genet. 2020 Aug;37(8):1837-1847. doi: 10.1007/s10815-020-01830-6. Epub 2020 Jun 10.
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 in-frame 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.
目的
我们旨在鉴定 TUBB8 中的新型变异体，以及导致女性不孕的卵母细胞/受精/胚胎发育异常的相应新型异常表型。
方法
对卵母细胞成熟或胚胎发育异常的不孕女性进行 TUBB8 的 Sanger 测序。通过形态学观察和免疫荧光评估变异体对患者卵母细胞的影响。
结果
我们在 51 名被诊断为卵母细胞成熟或早期胚胎发育异常的患者中鉴定出 34 种 TUBB8 的新型变异体。我们发现了一种新型表型，即三个独立患者中存在大极体，可能与反复出现的变异有关。此外，我们鉴定出一种新型的 TUBB8 变异体，由框内缺失-插入组成，这是以前未曾报道过的。
结论
本研究在 51 名患者中鉴定出 34 种 TUBB8 的新型变异体。这些患者表现为卵母细胞成熟阻滞、大极体卵母细胞、受精失败、早期胚胎阻滞或胚胎着床失败。这些结果扩展了与女性不孕相关的 TUBB8 变异体的变异类型和表型谱。
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