Loss of zona pellucida in oocytes due to compound heterozygous variants of ZP1 gene.
10.3760/cma.j.issn.1003-9406.2020.07.021
- Author:
Zheng ZHANG
1
;
Tao SHANGGUAN
;
Yuyan LI
;
Wei HE
Author Information
1. Reproductive Center of Obstetrics and Gynecology, the First Affiliated Hospital of Army Medical University, Chongqing 400038, China. anyhewei@163.com.
- Publication Type:Journal Article
- From:
Chinese Journal of Medical Genetics
2020;37(7):789-791
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis of a patient with primary infertility due to loss of zona pellucida.
METHODS:The proband and his parents were subjected to whole exome sequencing. Candidate variants were validated by Sanger sequencing and bioinformatics analysis.
RESULTS:The proband was found to harbor compound heterozygous variants of the ZP1 gene in exon 5 c.874C>T(Gln292*) and exon 7 c.1127_1128delCT (p.Ala376GlyTer386), which were respectively inherited from her mother and father.
CONCLUSION:The compound heterozygous variant of ZP1 gene probably underlie the loss of zona pellucida in oocyte disease in the proband.
