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- Title
Novel mutations in ZP1 and ZP2 cause primary infertility due to empty follicle syndrome and abnormal zona pellucida.
- Authors
Luo, Geng; Zhu, Lixia; Liu, Zhenxing; Yang, Xue; Xi, Qingsong; Li, Zhou; Duan, Jinliang; Jin, Lei; Zhang, Xianqin
- Abstract
Purpose: Mutations in the zona pellucida glycoprotein genes have been reported to be associated with empty follicle syndrome (EFS) and abnormal zona pellucida (ZP). In this study, we performed genetic analysis in the patients with female infertility due to abnormal zona pellucida and empty follicle syndrome to identify the disease-causing gene mutations in these patients. Methods: We characterized three patients from two independent families who had suffered from empty follicle syndrome or abnormal zona pellucida. Whole exome sequencing and Sanger sequencing were used to identify the mutations in the families. Western blot was used to check the expression of wild type and mutant disease genes. Results: We identified two novel mutations in these patients, including a novel compound heterozygous mutation (c.507delC, p. His170fs; c.239 G>A, p. Cys80Tyr and c.241 T>C, p. Tyr81His) in ZP1 gene and a compound mutation in ZP2 gene (c.860_861delTG, p.Val287fs and c.1924 C>T, p.Arg642Ter). Expression of the mutant ZP1 protein (p. Cys80Tyr and p. Tyr81His) is significantly decreased compared with the wild-type ZP1. Other three mutations produce truncated proteins. Conclusions: Our findings expand the mutational spectrum of ZP1 and ZP2 genes associated with EFS and abnormal oocytes and provide new support for the genetic diagnosis of female infertility.
- Subjects
ZONA pellucida; GENETIC mutation; FEMALE infertility; INFERTILITY; HUMAN chromosome abnormality diagnosis; MALE infertility
- Publication
Journal of Assisted Reproduction & Genetics, 2020, Vol 37, Issue 11, p2853
- ISSN
1058-0468
- Publication type
Article
- DOI
10.1007/s10815-020-01926-z