Complex heterozygous mutations in PATL2 result in female infertility characterized by oocyte maturation arrest
10.3760/cma.j.cn101441-20200317-00136
- VernacularTitle:PATL2基因的复合杂合突变导致以卵母细胞成熟停滞为特征的不孕
- Author:
Minghua LIU
1
;
Hui DU
1
;
Di SONG
1
;
Fengrui BI
1
;
Long MA
1
;
Yao WANG
1
;
Hongli YAN
1
Author Information
1. 海军军医大学附属长海医院生殖医学中心，上海200433
- Publication Type:Journal Article
- Keywords:
Oocyte maturation arrest;
PATL2 gene;
Mutation;
Infertility
- From:
Chinese Journal of Reproduction and Contraception
2021;41(3):252-256
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the genetic causes of oocyte maturation arrest.Methods:A pair of sisters with primary infertility was collected in the Reproductive Medicine Center of Changhai Hospital, Naval Medical University in 2018. Two PATL2 mutations were found in the patients by second-generation whole genome sequencing. Then, for all members of the family and a healthy control person, the regions near the two mutation sites were amplified and sequenced by Sanger sequencing to verify the two mutations. Furthermore, the pathogenesis of the disease was explored through bioinformatics analysis. Results:Compound heterozygous mutations of PATL2 were identified in the two sisters: a missense mutation (p.V260M) and a splicing mutation (p.R75Vfs*21). Both mutations have been reported, and they both cause abnormal splicing of PATL2 mRNA, leading to abnormal gene function. Conclusion:Our study confirmed the correlation between PATL2 mutations and human oocyte maturation arrest, and it provided molecular biomarkers for oocyte and embryo quality assessment.
