Novel genes and mutations in patients affected by recurrent pregnancy loss.

ABSTRACT: Recurrent pregnancy loss is a frequently occurring human infertility-related disease affecting ~1% of women. It has been estimated that the cause remains unexplained in >50% cases which strongly suggests that genetic factors may contribute towards the phenotype. Concerning its molecular aetiology numerous studies have had limited success in identifying the disease's genetic causes. This might have been due to the fact that hundreds of genes are involved in each physiological step necessary for guaranteeing reproductive success in mammals. In such scenario, next generation sequencing provides a potentially interesting tool for research into recurrent pregnancy loss causative mutations. The present study involved whole-exome sequencing and an innovative bioinformatics analysis, for the first

SUBMITTER: Quintero-Ronderos P 

PROVIDER: S-EPMC5634651 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature