RT Journal Article
SR Electronic
T1 Genetic diagnosis of subfertility: the impact of meiosis and maternal effects
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 271
OP 282
DO 10.1136/jmedgenet-2018-105513
VO 56
IS 5
A1 Alexander Gheldof
A1 Deborah J G Mackay
A1 Ying Cheong
A1 Willem Verpoest
YR 2019
UL http://jmg.bmj.com/content/56/5/271.abstract
AB During reproductive age, approximately one in seven couples are confronted with fertility problems. While the aetiology 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 that 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 that 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 and maternal-effect processes, which are of critical importance for reproduction and initial embryonic development. We give an overview of genes that have already been linked to infertility in human, as well as good candidates which have been described in other organisms. Finally, we propose a phenotypic range in which we expect an optimal diagnostic yield of a meiotic/maternal-effect gene panel.