KH domain containing 3 like (KHDC3L) frame-shift mutation causes both recurrent pregnancy loss and hydatidiform mole

Recurrent pregnancy loss (RPL) is a common infertility-related complication that affects approximately 1-3% of women worldwide. Known causes of etiology are found in approximately half the cases but the other half remain unexplained. It is estimated that several thousands of genes contribute to reproductive success in mammals and the genetic causes of RPL cannot be fully addressed through targeted genetic tests. In recent years, massive parallel sequencing technologies has helped discovering many causal mutations in hereditary diseases such as RPL.

Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology - February 10, 2021 Category: OBGYN Authors: Nayeralsadat Fatemi, Pierre F. Ray, Fariba Ramezanali, Tina Shahani, Amir Amiri-Yekta, Zine-Eddine Kherraf, Caroline Cazin, Navid Almadani, Maryam Varkiani, Soheila Sarmadi, Niloofar Sodeifi, Hamid Gourabi, Alireza Biglari, Mehdi Totonchi Tags: Full length article Source Type: research