Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects.

ABSTRACT:

Background

Oocyte maturation arrest and early embryonic arrest are important reproductive phenotypes resulting in female infertility and cause the recurrent failure of assisted reproductive technology (ART). However, the genetic etiologies of these female infertility-related phenotypes are poorly understood. Previous studies have mainly focused on inherited mutations based on large pedigrees or consanguineous patients. However, the role of de novo mutations (DNMs) in these phenotypes remains to be elucidated.

Results

To decipher the role of DNMs in ART failure and female infertility with oocyte and embryo defects, we explore the landscape of DNMs in 473 infertile parent-child trios and identify a set of 481 confident DNMs distributed in 474 genes. Gene ontology analysis reve

SUBMITTER: Li Q 

PROVIDER: S-EPMC10080761 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature