Human oocyte maturation arrest caused by a novel missense mutation in TUBB8

OBJECTIVE: To explore the etiology of human oocyte maturation arrest in two infertile Chinese sisters. METHODS: Clinical examination and genetic testing of all available family members were conducted, and the findings were used to create a pedigree. Mutation screening using PCR amplification and DNA Sanger sequencing of the entire tubulin beta 8 class VIII gene (TUBB8) including intron–exon boundaries was performed to identify mutations. RESULTS: A novel missense TUBB8 mutation (c.1054G > T, p.A352S) in the patient and her elder sister was detected and shown to be associated with oocyte maturation arrest. CONCLUSION: Our findings expand the known mutation spectrum of TUBB8 and provide insights into the etiology of human oocyte maturation arrest.