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Article

Mutations in TUBB8 cause a multiplicity of phenotypes in human oocytes and early embryos.

Journal of medical genetics - 1 Oct 2016

Feng Ruizhi, Yan Zheng, Li Bin, Yu Min, Sang Qing, Tian Guoling, Xu Yao, Chen Biaobang, Qu Ronggui, Sun Zhaogui, Sun Xiaoxi, Jin Li, He Lin, Kuang Yanping, Cowan Nicholas J, Wang Lei

Abstract excerpt

BACKGROUND: TUBB8 is a primate-specific β-tubulin isotype whose expression is confined to oocytes and the early embryo. We previously found that mutations in TUBB8 caused oocyte maturation arrest. The objective was to describe newly discovered mutations in TUBB8 and to characterise the accompanying spectrum of phenotypes and modes of inheritance. METHODS AND RESULTS: Patients with oocyte maturation arrest were...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27273344
DOI: 10.1136/jmedgenet-2016-103891
PMCID: PMC5035199

Genes

TUBB8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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