Case Report
Copyright ©The Author(s) 2024. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Apr 26, 2024; 12(12): 2092-2098
Published online Apr 26, 2024. doi: 10.12998/wjcc.v12.i12.2092
Early embryonic failure caused by a novel mutation in the TUBB8 gene: A case report
Xiao-Yu Zhang, Xing-Xing Zhang, Lei Wang
Xiao-Yu Zhang, Xing-Xing Zhang, Lei Wang, Department of Reproductive Center, Zaozhuang Maternal and Child Healthcare Hospital, Zaozhuang 277000, Shandong Province, China
Author contributions: Zhang XY contributed to study design and original draft preparation; Zhang XX contributed to data analysis and manuscript revision; Wang L contributed to supervision and critical review and final manuscript approval.
Supported by the Shandong Provincial Traditional Chinese Medicine Science and Technology Development Program, No. C-262; and the 2021 Science and Technology Innovation Research Project of Shandong Maternal and Child Health Association, No. 2021-19-24.
Informed consent statement: The patient provided written informed consent.
Conflict-of-interest statement: All authors have no competing interests to declare.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See:
Corresponding author: Lei Wang, Doctor, Associate Chief Physician, Department of Reproductive Center, Zaozhuang Maternal and Child Healthcare Hospital, No. 3 Fuyuan Road, Xuecheng District, Zaozhuang 277000, Shandong Province, China.
Received: November 29, 2023
Revised: February 22, 2024
Accepted: March 21, 2024
Published online: April 26, 2024

This study aimed to explore the relationship between gene mutations and early embryonic development arrest and to provide more possibilities for the diagnosis and treatment of repeated implantation failure.


Here, we collected and described the clinical data of a patient with early embryonic development stagnation after repeated in vitro fertilization attempts for primary infertility at the Department Reproductive Center of Zaozhuang Maternal and Child Healthcare Hospital. We also detected the whole-exon gene of the patient's spouse and parents, and conducted bioinformatics analysis to determine the pathogenesis of the gene.


A novel mutant of the TUBB8 gene [c.602G>T(p.C201F)] was identified, and this mutant provided new data on the genotype-phenotype relationships of related diseases.

Keywords: Genes, Mutation, Embryonic development, Fertilization in vitro, Intracytoplasmic sperm injection, Case report

Core Tip: A clinical case (28 years old) in which a new mutation in the TUBB8 gene caused repeated arrest of early embryonic development to expand our understanding of the genetic basis of female infertility and lay the groundwork for future genetic counseling.