Whole-exome sequencing in premature ovarian failure

Investigation subject: Identification of novel variants and candidate genes in women with familial idiopathic premature ovarian failure (cessation of menstruation before age 40) using whole-exomesequencing (WES).

Objective: To identify a genetic cause of familial premature ovarian failure (POF) with whole-exome sequencing.

Current situation: Premature ovarian failure is a common cause of infertility in women. This pathology has a heterogeneous etiology. Some chromosomal and genetic alterations have been described, and could explain approximately 20% of cases. However, in most patients the origin remains unknown. Recent studies with next-generation sequencing (NGS) have identified new variants in candidate genes related with premature ovarian insufficiency (POI) or premature ovarian failure (POF). These genes are not only involved in processes such as folliculogenesis, but also with DNA damage repair, homologous recombination, and meiosis.

Location: Instituto Bernabeu Alicante.

Coordinated by: Dr Ruth Morales and Dr Belén Lledó.