Novel variants in TUBB8 gene cause multiple phenotypic abnormalities in human oocytes and early embryos.

ABSTRACT:

Background

The genotype-phenotype relationships between TUBB8 variants and female infertility are difficult to clearly define due to the complex inheritance patterns and the highly heterogeneous phenotypes. This study aims to identify novel TUBB8 variants and relevant phenotypes in more infertile females.

Methods

A total of 35 females with primary infertility were recruited from two reproductive centers and investigated for identifying variants in TUBB8. Pedigree analysis, in-silico analysis and molecular remodeling were performed to assess their clinical significance. The effects of the variants on human oocytes and embryos as well as HeLa cells were analyzed by morphological observations, immunostaining and Western blot.

Results

We totally identified five novel vari

SUBMITTER: Hu T 

PROVIDER: S-EPMC10675859 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature