Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles

Androgenetic complete hydatidiform moles are human pregnancies with no embryos and affect 1 in every 1,400 pregnancies. They have mostly androgenetic monospermic genomes with all the chromosomes originating from a haploid sperm and no maternal chromosomes. Androgenetic complete hydatidiform moles were described in 1977, but how they occur has remained an open question. We identified bi-allelic deleterious mutations in MEI1, TOP6BL/C11orf80, and REC114, with roles in meiotic double-strand breaks formation in women with recurrent androgenetic complete hydatidiform moles.

Source: The American Journal of Human Genetics - November 1, 2018 Category: Genetics & Stem Cells Authors: Ngoc Minh Phuong Nguyen, Zhao-Jia Ge, Ramesh Reddy, Somayyeh Fahiminiya, Philippe Sauthier, Rashmi Bagga, Feride Iffet Sahin, Sangeetha Mahadevan, Matthew Osmond, Magali Breguet, Kurosh Rahimi, Louise Lapensee, Karine Hovanes, Radhika Srinivasan, Ignatia Tags: Article Source Type: research