Ontology highlight
ABSTRACT:
SUBMITTER: Wang W
PROVIDER: S-EPMC8440679 | biostudies-literature | 2021 Sep
REPOSITORIES: biostudies-literature
Wang Weijie W Qu Ronggui R Dou Qian Q Wu Fengyan F Wang Wenjing W Chen Biaobang B Mu Jian J Zhang Zhihua Z Zhao Lin L Zhou Zhou Z Dong Jie J Zeng Yang Y Liu Ruyi R Du Jing J Zhu Shujia S Li Qiaoli Q He Lin L Jin Li L Wang Lei L Sang Qing Q
European journal of human genetics : EJHG 20210125 9
PANX1, one of the members of the pannexin family, is a highly glycosylated channel-forming protein. Recently, we identified heterozygous variants in PANX1 that follow an autosomal dominant inheritance pattern and cause female infertility characterized by oocyte death. In this study, we screened for novel PANX1 variants in patients with the phenotype of oocyte death and discovered a new type of inheritance pattern accompanying PANX1 variants. We identified two novel homozygous missense variants i ...[more]