Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2

We report two families affected by female-limited infertility caused by oocyte maturation failure. Positional m apping and whole-exome sequencing revealed two homozygous, likely deleterious variants in PATL2, each of which fully segregates with the phenotype within the respective family.

Source: The American Journal of Human Genetics - September 28, 2017 Category: Genetics & Stem Cells Authors: Sateesh Maddirevula, Serdar Coskun, Saad Alhassan, Atif Elnour, Hessa S. Alsaif, Niema Ibrahim, Firdous Abdulwahab, Stefan T. Arold, Fowzan S. Alkuraya Tags: Report Source Type: research