A novel homozygous C-terminal deletion in BTG4 causes zygotic cleavage failure and female infertility.

ABSTRACT:

Purpose

We aimed to identify pathogenic variants in a female patient with primary infertility and recurrent failure of in vitro fertilization with zygotic cleavage failure.

Methods

The genomic DNA from the affected individual was subjected to whole-exome sequencing and the variant was confirmed by Sanger sequencing. The functional effect of the identified variant was further investigated in 293 T cells.

Results

We identified a novel homozygous deletion in BTG4 (c.580_616del) in the affected individual. The deletion results in frameshift and replacement of the last 29 residues (aa195-223) with 66 random amino acids. The mutated amino acid residues are highly conserved among mammalian species. Co-immunoprecipitation in 293 T cells showed that the mutation abolished the

SUBMITTER: Wang Y 

PROVIDER: S-EPMC9840730 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature