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Journal of Assisted Reproduction and Genetics

Published in:

01-07-2018 | Genetics

A novel mutation in the TUBB8 gene is associated with complete cleavage failure in fertilized eggs

Authors: Ping Yuan, Lingyan Zheng, Hao Liang, Yu Li, Haijing Zhao, Ruiqi Li, Luhua Lai, Qingxue Zhang, Wenjun Wang

Published in: Journal of Assisted Reproduction and Genetics | Issue 7/2018

Abstract

Purpose

Cleavage of the zygote during human reproduction is a key event of early embryonic development. The genetic events associated with idiopathic embryonic cleavage failure are not certain. Mutations in the tubulin beta 8 class VIII (TUBB8) gene have been reported to be associated with oocyte maturation, fertilization, and developmental arrest. Here, we aimed to assess the clinical and genetic characteristics of complete cleavage failure in fertilized eggs.

Methods

We have characterized a patient with a 9-year history of primary infertility in a non-consanguineous family from China. The patient presented complete cleavage failure in all two-pronuclear (2PN) fertilized oocytes after 2 cycles of in vitro fertilization (IVF). We performed Sanger sequencing of the TUBB8 gene in the patient, and further bioinformatics analysis to identify pathogenesis of gene.

Results

A novel homozygous mutation, c.322G > A (p.Glu108Lys), was detected, and this change was absent from 179 control subjects. Glutamic acid is highly conserved at this position, and replacement by lysine was predicted to be repelled by the α-tubulin positive region, disrupting the α-β tubulin interaction.

Conclusions

Our findings presented a homozygous mutation of TUBB8 associated with complete cleavage failure in fertilized eggs and provided new data for the genotype-phenotype of TUBB8-related diseases.

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Title: A novel mutation in the TUBB8 gene is associated with complete cleavage failure in fertilized eggs
Authors: Ping Yuan
Lingyan Zheng
Hao Liang
Yu Li
Haijing Zhao
Ruiqi Li
Luhua Lai
Qingxue Zhang
Wenjun Wang
Publication date: 01-07-2018
Publisher: Springer US
Published in: Journal of Assisted Reproduction and Genetics / Issue 7/2018
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI: https://doi.org/10.1007/s10815-018-1188-3

At a glance: The STEP trials

Springer Medicine

A novel mutation in the TUBB8 gene is associated with complete cleavage failure in fertilized eggs

Abstract

Purpose

Methods

Results

Conclusions

At a glance: The STEP trials

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusions

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