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Journal of Assisted Reproduction and Genetics
Published in: Journal of Assisted Reproduction and Genetics 4/2020

01-04-2020 | Infertility | Genetics

Novel homozygous mutations in PATL2 lead to female infertility with oocyte maturation arrest

Authors: Zhenxing Liu, Lixia Zhu, Jiarui Wang, Geng Luo, Qingsong Xi, Xiaopei Zhou, Zhou Li, Xue Yang, Jinliang Duan, Lei Jin, Xianqin Zhang

Published in: Journal of Assisted Reproduction and Genetics | Issue 4/2020

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Abstract

Purpose

To identify the disease gene in 40 patients with female infertility due to oocyte maturation arrest.

Methods

Genomic DNA was extracted from peripheral blood of 40 patients and their family members. Whole-exome sequencing was performed on the patients, and the PATL2 mutations were identified and confirmed by Sanger sequencing. Harmfulness of the mutations was analyzed by SIFT, Polyphen-2, Mutation Taster, and M-CAP software, and we used western immunoblotting analysis to check the effect of mutations on PATL2 protein expression in vitro.

Results

Two novel missense mutations c.1528C>A (p.Pro510Thr) and c.1376C>A (p.Ser459Tyr) in PATL2 were identified in three patients (7.5%) from two consanguineous families in our cohort. We found that mutations in PATL2 resulted in variable oocyte phenotypes, including GV arrest, MI arrest, and morphologic abnormalities. Western immunoblotting analysis showed that the expression levels of the two novel mutant PATL2 proteins decreased significantly.

Conclusions

We identified two novel PATL2 mutations that caused oocyte maturation arrest and abnormal morphology, and variable phenotypes in patients.
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Metadata
Title
Novel homozygous mutations in PATL2 lead to female infertility with oocyte maturation arrest
Authors
Zhenxing Liu
Lixia Zhu
Jiarui Wang
Geng Luo
Qingsong Xi
Xiaopei Zhou
Zhou Li
Xue Yang
Jinliang Duan
Lei Jin
Xianqin Zhang
Publication date
01-04-2020
Publisher
Springer US
Published in
Journal of Assisted Reproduction and Genetics / Issue 4/2020
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI
https://doi.org/10.1007/s10815-020-01698-6

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