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Article

Biallelic variants in α-tubulin isotypes cause female infertility characterised as recurrent preimplantation embryo arrest.

Journal of medical genetics - 23 Oct 2024

Hu Huiling, Wan Xian, Zhang Honghui, Sun Jiaqi, Meng Fei, Zhang Shuoping, Gu Yifan, Gong Fei, Zhao Han, Lin Ge, Zheng Wei

Abstract excerpt

BACKGROUND: Recurrent preimplantation embryo developmental arrest (RPEA) is the most common phenotype in assisted reproductive technology treatment failure associated with identified genetic abnormalities. Currently known maternal genetic variants explain only a limited number of cases. Variants of the β-tubulin subunit gene, TUBB8, cause oocyte meiotic arrest and RPEA through a broad spectrum of spindle defects....

Topics

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Alleles
Blastocyst
Embryonic Development
Exome Sequencing
Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infertility, Female

Protein Isoforms

Source

Identifiers

PMID: 39209701
DOI: 10.1136/jmg-2024-110163

Genes

TUBA4A
TUBA1C
TUBB8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Biallelic variants in α-tubulin isotypes cause female infertility characterised as recurrent preimplantation embryo arrest.PMID 39209701Read ↗

Mutation analysis of the TUBB8 gene in primary infertile women with oocyte maturation arrest.Semantic proximity Read ↗

Identification of TUBB8 Variants in 5 Primary Infertile Women with Multiple Phenotypes in Oocytes and Early Embryos.Semantic proximity Read ↗

Mutations in TUBB8 and Human Oocyte Meiotic Arrest.Semantic proximity Read ↗

Predicting Infertility: How Genetic Variants in Oocyte Spindle Genes Affect Egg Quality.Semantic proximity Read ↗

Mutations in TUBB8 cause a multiplicity of phenotypes in human oocytes and early embryos.Semantic proximity Read ↗

Genetic Mutations and Non-Genomic Dysregulation in Human Preimplantation Embryo Arrest.Semantic proximity Read ↗

A novel compound heterozygous mutation in TUBB8 causing early embryonic developmental arrest.Semantic proximity Read ↗

Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects.Semantic proximity Read ↗

Two mutations in TUBB8 cause developmental arrest in human oocytes and early embryos.Semantic proximity Read ↗

Identification of novel variants and expansion of the phenotypic spectrum in PATL2, WEE2, and TUBB8 associated with human early embryonic arrest.Semantic proximity Read ↗

Three Novel Mutations in TUBB8 Cause Female Infertility Due to Multiple Morphological Abnormalities of the Oocyte and Early Embryo.Semantic proximity Read ↗

Novel mutations and structural deletions in TUBB8: expanding mutational and phenotypic spectrum of patients with arrest in oocyte maturation, fertilization or early embryonic development.Semantic proximity Read ↗

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