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KHDC3L mutation causes recurrent pregnancy loss by inducing genomic instability of human early embryonic cells

14 Oct 2019

Abstract excerpt

Recurrent pregnancy loss (RPL) is an important complication in reproductive health. About 50% of RPL cases are unexplained, and understanding the genetic basis is essential for its diagnosis and prognosis. Herein, we report causal KH domain containing 3 like (KHDC3L) mutations in RPL. KHDC3L is expressed in human epiblast cells and ensures their genome stability and viability. Mechanistically, KHDC3L binds to...

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PMID: 31609975
DOI: 10.1371/journal.pbio.3000468

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