A Recurrent Missense Mutation in ZP3 Causes Empty Follicle Syndrome and Female Infertility

Empty follicle syndrome (EFS) is defined as the failure to aspirate oocytes from mature ovarian follicles during in  vitro fertilization. Except for some cases caused by pharmacological or iatrogenic problems, the etiology of EFS remains enigmatic. In the present study, we describe a large family with a dominant inheritance pattern of female infertility characterized by recurrent EFS. Genome-wide linkage analyse s and whole-exome sequencing revealed a paternally transmitted heterozygous missense mutation of c.400 G>A (p.Ala134Thr) in zona pellucida glycoprotein 3 (ZP3).

Source: The American Journal of Human Genetics - September 7, 2017 Category: Genetics & Stem Cells Authors: Tailai Chen, Yuehong Bian, Xiaoman Liu, Shigang Zhao, Keliang Wu, Lei Yan, Mei Li, Zhenglin Yang, Hongbin Liu, Han Zhao, Zi-Jiang Chen Tags: Report Source Type: research