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

Genetic diagnosis of subfertility – the impact of meiosis and maternal effects
Genetic diagnosis of subfertility – the impact of meiosis and maternal effects
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.
0022-2593
271-282
Gheldof, Alexander
029b52d6-5243-4cf6-9666-c360240a49b3
Mackay, Deborah
2249a33e-e573-4270-b396-784e32389a59
Cheong, Ying
4efbba2a-3036-4dce-82f1-8b4017952c83
Verpoest, Willem
69891e27-1e22-4f7d-880c-2037d53afde5
Gheldof, Alexander
029b52d6-5243-4cf6-9666-c360240a49b3
Mackay, Deborah
2249a33e-e573-4270-b396-784e32389a59
Cheong, Ying
4efbba2a-3036-4dce-82f1-8b4017952c83
Verpoest, Willem
69891e27-1e22-4f7d-880c-2037d53afde5

Gheldof, Alexander, Mackay, Deborah, Cheong, Ying and Verpoest, Willem (2019) Genetic diagnosis of subfertility – the impact of meiosis and maternal effects. Journal of Medical Genetics, 56 (5), 271-282. (doi:10.1136/jmedgenet-2018-105513).

Record type: Article

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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Genetic diagnosis of subfertility - the impact of meiosis and maternal effects - Gheldof et al1 - Author's Original
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Genetic diagnosis of subfertility - the impact of meiosis and maternal effects - Accepted Manuscript
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Accepted/In Press date: 27 December 2018
e-pub ahead of print date: 6 February 2019
Published date: 1 May 2019

Identifiers

Local EPrints ID: 427182
URI: https://eprints.soton.ac.uk/id/eprint/427182
ISSN: 0022-2593
PURE UUID: e41aae3e-2e81-4cef-a615-67d8bb238bbe
ORCID for Ying Cheong: ORCID iD orcid.org/0000-0001-7687-4597

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Date deposited: 04 Jan 2019 17:30
Last modified: 19 Jul 2019 16:47

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