TY - JOUR T1 - Compound heterozygous <em>ZP1</em> mutations cause empty follicle syndrome in infertile sisters JF - bioRxiv DO - 10.1101/363911 SP - 363911 AU - Ling Sun AU - Xiang Fang AU - Zhi-Heng Chen AU - Han-Wang Zhang AU - Xiao-Fang Peng AU - Yu Deng AU - Ting Xue AU - Min-Na Yin AU - Qian-Ying Zhu AU - Chun-Lin Liu AU - Na Li Y1 - 2018/01/01 UR - http://biorxiv.org/content/early/2018/07/06/363911.abstract N2 - Purpose Empty follicle syndrome (EFS) is a condition in which no oocyte is retrieved from mature follicles after proper ovarian stimulation in an in vitro fertilization (IVF) procedure. Genetic evidence accumulates for the etiology of recurrent EFS even with improved medical treatment which had avoided the pharmacological or iatrogenic problems. Here, this study investigated the genetic cause of recurrent EFS in a family with two infertile sisters.Methods In this work, we present two infertile sisters in a family with recurrent EFS after three cycles of standard ovarian stimulation with hCG and/or GnRHa therapy. We performed whole-exome sequencing and targeted sequencing in the core members of this family, and further bioinformatics analysis to identify pathogenesis of gene.Results We identified compound heterozygous variants, c.161_165del (p.54fs) and c.1166_1173del (p.389fs), on zona pellucida glycoprotein 1 (ZP1) gene, which were shared with two infertile sisters. Cosegregation tests on the affected and unaffected members of this family confirmed that the allelic mutants were transmitted from either parent.Conclusions This EFS phenotype was distinct from the previously reported disruption of zona pellucida due to homozygous ZP1 defects. We thus propose that the specific mutations in ZP1 gene may render a causality for the recurrent EFS.Dr. Ling Sun gained her MD in 1995 and her PhD in 2007. She is a gynecologist, active in the fields of reproductive medicine; she set up the Department of Assisted Reproduction in Guangzhou women and children’s hospital in 2009. Her main research interests are the genetics of infertility. ER -