Genetic diagnosis of subfertility – the impact of meiosis and maternal effects

Abstract

During reproductive age, approximately one in seven couples are confronted with fertility problems. While the etiology is diverse, including infections, metabolic diseases, hormonal imbalances and iatrogenic effects, it is becoming increasingly clear that genetic factors have a significant contribution. Due to the complex nature of infertility which often hints at a multifactorial cause, the search for potentially causal gene mutations in idiopathic infertile couples has remained difficult. Idiopathic infertility patients with a suspicion of an underlying genetic cause can be expected to have mutations in genes which do not readily affect general health, but are only essential in certain processes connected to fertility. In this review, we specifically focus on genes involved in meiosis, a process which plays a pivotal role in fertility, and genes critical for maternal effect processes. We give an overview of genes which have been linked to infertility, as well as genes which are good candidates. Finally, we propose a phenotypic range in which we expect an optimal diagnostic yield of a meiotic/maternal effect gene panel.

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Identifiers

ORCID for Deborah Mackay: orcid.org/0000-0003-3088-4401

ORCID for Ying Cheong: orcid.org/0000-0001-7687-4597

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