A novel compound heterozygous mutation in TUBB8 causing early embryonic developmental arrest.

Abstract excerpt

PURPOSE: Mutations in the β-tubulin isotype, TUBB8, can cause female infertility. Although several mutations of TUBB8 have been reported, the full spectrum for guiding genetics counseling still needs to be further explored. Here, we sought to identify novel variants in TUBB8 and their phenotypic effects on microtubule network structure in vitro. METHODS: Whole-exome sequence analysis was performed in two families...

Topics

Join the communities discussing this publication.

• HeLa Cells
• Infertility, Female
• Microtubules
• Mutation
• Oocytes