A novel heterozygous variant in PANX1 is associated with oocyte death and female infertility.

Xing-Wu WuPei-Pei LiuYang ZouDing-Fei XuZhi-Qin ZhangLi-Yun Caonull Lu-FanLei-Zhen XiaJia-Lv HuangJia ChenCai-Lin XinZhi-Hui HuangJun TanQiong-Fang WuZeng-Ming Li

Published in: Journal of assisted reproduction and genetics (2022)

Our findings expand the inheritance pattern of PANX1 variants to an autosomal dominant mode with reduced penetrance and enrich the variational spectrum of PANX1. These results help us to better understand the genetic basis of female infertility with oocyte death.

Keyphrases

copy number
mitochondrial dna
polycystic ovary syndrome
early onset
genome wide
gene expression
dna methylation
insulin resistance
skeletal muscle