A case of oocyte maturation defect caused by homozygous of PATL2 gene c.1363C>T
10.3760/cma.j.cn101441-20240422-00139
- VernacularTitle:PATL2基因c.1363C>T纯合无义突变致卵母细胞成熟阻滞1例
- Author:
Jia DENG
1
;
Lyujun LIU
;
Hualin HUANG
;
Min LIU
;
Xianghe MENG
;
Jiaolei LIAO
;
Aimin DENG
;
Zenghui MAO
Author Information
1. 湖南师范大学附属长沙市妇幼保健院生殖医学中心 区域遗传性出生缺陷防控研究重点实验室，长沙 410007
- Publication Type:Journal Article
- Keywords:
Primary infertility;
Whole exome sequencing;
Oocyte maturation defect;
PATL2 gene
- From:
Chinese Journal of Reproduction and Contraception
2024;44(9):955-958
- CountryChina
- Language:Chinese
-
Abstract:
Oocyte maturation defect is an extremely rare primary infertility, which is characterized by ovum development arrest, oocyte complete fertilization failure, oocyte apoptosis before and after fertilization, and early embryonic development arrest. This case explored the genetic etiology of a primary infertility patient, who had no mature oocyte after two cycles of controlled ovarian hyperstimulation. Peripheral blood samples of the patient were collected for whole exome sequencing, the suspected pathogenic variants were screened by bioinformatics and verified by sanger sequencing on the patient and her parents. Results showed that the patient was found to harbor homozygous variant of the PATL2 gene, namely c.1363C>T (p.Gln455*). Sanger sequencing has verified that the parents are both heterozygous. The mutation of c.1363C>T is a rare pathogenic mutation that had not yet been recorded in HGMD database. In this case, PATL2 gene mutation can cause oocyte maturation arrest, it is recommended to use whole exome sequencing and genetic counseling as soon as possible for these patients, so as to select appropriate treatment.
