Article
Obstetrics & Gynecology
Weijie Wang, Wenjing Wang, Yao Xu, Juanzi Shi, Jing Fu, Biaobang Chen, Jian Mu, Zhihua Zhang, Lin Zhao, Jing Lin, Jing Du, Qiaoli Li, Lin He, Li Jin, Xiaoxi Sun, Lei Wang, Qing Sang
Summary: This study identified three pathogenic variants in FBXO43 that are associated with early embryonic arrest in humans. By investigating the effects of these variants in cells and mouse oocytes, a causal relationship between FBXO43 and female infertility was established. These findings contribute to understanding the role of FBXO43 in human early embryonic development and provide a new genetic marker for female infertility.
HUMAN REPRODUCTION
(2021)
Article
Obstetrics & Gynecology
Lingli Huang, Fengsong Wang, Shuai Kong, Yu Wang, Gaojie Song, Fangting Lu, Jingjuan Ji, Lihua Luo, Xianhong Tong
Summary: This study identified two novel mutations in CDC20, expanding the mutation spectrum of this gene. Biallelic mutations in CDC20 occur in a proportion of infertile females with oocyte maturation abnormality and early embryonic arrest, as confirmed by the findings.
REPRODUCTIVE SCIENCES
(2021)
Article
Genetics & Heredity
Xiang Wang, Ruixi Zhou, Xiaowei Lu, Siyu Dai, Mohan Liu, Chuan Jiang, Yanting Yang, Ying Shen, Yan Wang, Hanmin Liu
Summary: This study identified mutations in the PABPC1L gene that are associated with oocyte maturation abnormalities and early embryonic arrest, highlighting the essential role of PABPC1L in human female fertility.
Article
Cell Biology
Yao Xu, Rongxiang Wang, Zhi Pang, Zhiyun Wei, Lihua Sun, Sa Li, Guanghua Wang, Yu Liu, Yiwen Zhou, Hongjuan Ye, Liping Jin, Songguo Xue
Summary: This study identified two novel homozygous variants of the PADI6 gene and further supported the causality between these mutations and female infertility, expanding the mutational spectrum of PADI6.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Yi Luan, Pauline Xu, Seok-Yeong Yu, So-Youn Kim
Summary: The p63 transcription factor is crucial in female reproduction, serving as a genomic guardian in the ovaries and its mutations are increasingly associated with female infertility.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Genetics & Heredity
Lingli Huang, Yu Wang, Fangting Lu, Qi Jin, Gaojie Song, Jingjuan Ji, Lihua Luo, Rentao Jin, Xianhong Tong
Summary: This study aimed to identify genetic causes of primary infertility in 12 women with oocyte maturation abnormality. Novel mutations in NLRP5 and PATL2 were found, expanding the mutational and phenotypic spectrum of both genes. The NLRP5 mutations associated with oocyte maturation abnormality in humans were reported for the first time.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2022)
Article
Genetics & Heredity
Zhou Zhou, Huizhen Fan, Rong Shi, Yang Zeng, Ruyi Liu, Hao Gu, Qiaoli Li, Qing Sang, Lei Wang, Juanzi Shi, Biaobang Chen
Summary: Whole exome sequencing in an affected individual from a consanguineous family revealed a novel variant in the ZFP36L2 gene, which may cause oocyte maturation defect and further broadened the mutational and phenotypic spectrum of ZFP36L2, suggesting that ZFP36L2 could be a genetic diagnostic marker for individuals with oocyte maturation defect.
Article
Medicine, Research & Experimental
Yin-Li Zhang, Wei Zheng, Peipei Ren, Huiling Hu, Xiaomei Tong, Shuo-Ping Zhang, Xiang Li, Haichao Wang, Jun-Chao Jiang, Jiamin Jin, Weijie Yang, Lanrui Cao, Yuanlin He, Yerong Ma, Yingyi Zhang, Yifan Gu, Liang Hu, Keli Luo, Fei Gong, Guang-Xiu Lu, Ge Lin, Heng-Yu Fan, Songying Zhang
Summary: Rare MOS variants were identified in infertile females with EEAF, leading to decreased ERK phosphorylation and disruption of maternal mRNA clearance related to mitochondrial function. Inactivation of the MOS-ERK signaling pathway drives EEAF by impairing oocyte cytoplasmic maturation in humans as shown in mice models.
EMBO MOLECULAR MEDICINE
(2021)
Article
Genetics & Heredity
Xiaomei Tong, Jiamin Jin, Zhanhong Hu, Yingyi Zhang, Heng-Yu Fan, Yin-Li Zhang, Songying Zhang
Summary: This study found that compound heterozygous missense variants in the OOEP gene and novel NLRP5 variants are associated with recurrent preimplantation embryonic arrest. These mutations result in downregulated transcriptome and decreased protein levels in arrested embryos.
Article
Genetics & Heredity
Juan Liu, Zongjian Tan, Jun He, Tingting Jin, Yuanyuan Han, Li Hu, Shengwen Huang
Summary: This study identified two novel homozygous mutations in the PADI6 and TLE6 genes associated with embryonic developmental arrest. The findings expand the mutational spectrum and deepen the understanding of genetic causes of infertility with recurrent ART failure.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2021)
Letter
Genetics & Heredity
Cheng Cheng, James Cleak, Lan Weiss, Heather Cater, Michelle Stewart, Sara Wells, Rod Carlo Columbres, Alyaa Shmara, C. Alejandra Morato Torres, Faria Zafar, Birgitt Schule, Jonathan Neumann, Eli Hatchwell, Virginia Kimonis
Summary: Variants in the NUBPL gene are associated with complex I deficiency mitochondrial disease, which causes neurological symptoms. By generating a mouse model with a patient-specific Nubpl variant, researchers found that the variant might be a hypomorph allele. No significant link between aging-related behaviors and Parkinson's disease markers was found. They suggest the use of tissue-specific knockout strategy to establish a mouse model for further research.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Article
Obstetrics & Gynecology
Yang Zeng, Juanzi Shi, Shiru Xu, Rong Shi, Tonghua Wu, Hongyan Li, Xia Xue, Yuanchang Zhu, Biaobang Chen, Qing Sang, Lei Wang
Summary: Mutations in the MOS gene were found to be associated with female infertility characterized by preimplantation embryonic arrest. These mutations affect the protein levels and phosphorylation abilities of MOS, impacting human oocyte meiosis and embryonic development.
HUMAN REPRODUCTION
(2022)
Article
Genetics & Heredity
Liwei Sun, Keya Tong, Weiwei Liu, Yin Tian, Sheng Yang, Danni Zhou, Dongyun Liu, Guoning Huang, Jingyu Li
Summary: This study describes the clinical and diagnostic phenotype of a female with unknown causes of infertility and identifies a pathogenic variant. A novel homozygous splice site variant of PATL2 was found to be responsible for the oocyte GV arrest phenotype and its molecular mechanism was elucidated.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Jian Han, Nana Zhang, Qiqi Cao, Xiaodan Shi, Congjing Wang, Ximan Rui, Jie Ding, Chun Zhao, Junqiang Zhang, Xiufeng Ling, Hong Li, Yichun Guan, Qingxia Meng, Ran Huo
Summary: Successful human reproduction requires normal oocyte maturation, fertilization, and early embryo development. NLRP7 variants were found to be associated with early embryo arrest, and this study identified five heterozygous variants of NLRP7 in infertile patients who experienced early embryo arrest. The study also demonstrated that NLRP7 variants can influence oocyte quality and early embryo development, providing a new genetic marker for clinical early embryo arrest patients.
JOURNAL OF MOLECULAR MEDICINE-JMM
(2023)
Article
Genetics & Heredity
Wei Zheng, Huiling Hu, Jing Dai, Shuoping Zhang, Yifan Gu, Can Dai, Jing Guo, Xinxin Xu, Yuan Li, Shunji Zhang, Liang Hu, Fei Gong, Guangxiu Lu, Ge Lin
Summary: The study identified 13 novel variants in SCMC genes from infertile females with recurrent preimplantation embryonic arrest. These findings expand the genetic and phenotypic spectrum of SCMC genes associated with human embryogenesis, potentially aiding in the genetic diagnosis of female infertility.