Two novel mutations in PADI6 and TLE6 genes cause female infertility due to arrest in embryonic development.

ABSTRACT:

Purpose

This study aims to identify genetic causes of female infertility associated with recurrent failure of assisted reproductive technology (ART) characterized by embryonic developmental arrest.

Methods

We recruited infertile patients from two consanguineous families from the Reproductive Medicine Center of Guizhou Provincial People's Hospital. Peripheral blood was collected for genomic DNA extraction. Two affected individuals and their family members were performed with whole-exome sequencing and Sanger validation in order to identify possible causative genes. For further analyzing the effect of splicing mutation on mRNA integrity in vivo, TLE6 cDNA from the peripheral blood lymphocyte of the affected individual was sequenced. In addition, the possible impact of the path

SUBMITTER: Liu J 

PROVIDER: S-EPMC8266952 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature