The comprehensive variant and phenotypic spectrum of TUBB8 in female infertility.

ABSTRACT:

Purpose

TUBB8 is a gene that is frequently analysed in the genetic diagnosis of female infertility; 102 variants of this gene have been identified. However, the evaluation of its pathogenicity and the resulting phenotypes vary. Here, we aimed to identify novel TUBB8 variants as well as to summarize the reported variants and phenotypes in order for them to be included in genetic counselling analyses.

Methods

We performed whole exome sequencing to screen for candidate variants in 100 infertile female subjects and 100 controls who were able to conceive naturally. All variants were confirmed by Sanger sequencing. The effects of the variants in oocytes/arrested embryos were assessed by morphological observations, polar body biopsies, and chromosome analysis. A molecular modelling

SUBMITTER: Zheng W 

PROVIDER: S-EPMC8490578 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature