Whole exome sequencing in recurrent early pregnancy loss.

ABSTRACT:

Study hypothesis

Exome sequencing can identify genetic causes of idiopathic recurrent pregnancy loss (RPL).

Study finding

We identified compound heterozygous deleterious mutations affecting DYNC2H1 and ALOX15 in two out of four families with RPL. Both genes have a role in early development. Bioinformatics analysis of all genes with rare and putatively pathogenic mutations in miscarriages and couples showed enrichment in pathways relevant to pregnancy loss, including the complement and coagulation cascades pathways.

What is known already

Next generation sequencing (NGS) is increasingly being used to identify known and novel gene mutations in children with developmental delay and in fetuses with ultrasound-detected anomalies. In contrast, NGS is rarely used to study pre

SUBMITTER: Qiao Y 

PROVIDER: S-EPMC4847612 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature