Identification novel mutations in TUBB8 in female infertility and a novel phenotype of large polar body in oocytes with TUBB8 mutations.

Lin ZhaoYichun GuanWenjing WangBiaobang ChenShiru XuLing WuZheng YanBin LiJing FuRong ShiJuanzi ShiJing DuQiaoli LiZhihua ZhangJian MuZhou ZhouJie DongLi JinLin HeXiaoxi SunYanping KuangLei WangQing Sang

Published in: Journal of assisted reproduction and genetics (2020)

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.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
copy number
peritoneal dialysis
cell cycle
metabolic syndrome
ionic liquid
gene expression
dna methylation
patient reported
genome wide