Article
A Homozygous Frameshift Mutation in GREB1 Leads to Female Infertility.
Human mutation - 1 Jan 2026
Yang Jinwei, Yang Linyan, Yan Bo, Li Hongbao, Zhang Lin, Hu Ting, Chao Xingyi, Zhang Chuan, Ni Yali, Wang Zhiqiang
Abstract excerpt
Primary infertility affects 15% of couples worldwide, yet many genetic causes remain unknown. Through whole-exome sequencing of a woman with primary infertility and repeated embryo implantation failure, we identified a novel homozygous frameshift mutation in GREB1 (c.5364delC, p.Ala1789Argfs∗42). Sanger sequencing confirmed heterozygous carrier status in both parents. Functional studies demonstrated the absence...
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