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

ABSTRACT:

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 with infertility to detect pathogenic variants, with validation by Sanger sequencing. All gene variants and protein structures were predicted in silico. Cells were transfected with wild-type and mutants, and immunofluorescence analysis was performed to visualize microtubule network changes.

Results

We detected a novel compound heterozygous mutation, c.915_916de

SUBMITTER: Zhang J 

PROVIDER: S-EPMC10224908 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature