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Rare genetic variants potentially involved in ovarian hyperstimulation syndrome. / Stouffs, Katrien; Daelemans, Sari; Santos-Ribeiro, Samuel; Seneca, Sara; Gheldof, Alexander; Gürbüz, Ali Sami; De Vos, Michel; Tournaye, Herman; Blockeel, Christophe.

In: Journal of Assisted Reproduction and Genetics, Vol. 36, No. 3, 03.2019, p. 491-497.

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@article{26c9187a0e1244dfa285d892dff614b7,
title = "Rare genetic variants potentially involved in ovarian hyperstimulation syndrome",
abstract = "PURPOSE: We aim to investigate whether there is a genetic predisposition in women who developed ovarian hyperstimulation syndrome (OHSS) after GnRH antagonist protocol with GnRH agonist trigger and freeze-all approach.METHODS: Four patients with OHSS after GnRH agonist trigger and freeze-all approach were gathered from the worldwide patient population. These patients were analyzed through Whole Exome Sequencing. In this study known causes of OHSS were investigated and new causes present in at least two individuals were searched for.RESULTS: In the first part of the study, we evaluated the presence of mutations in genes already known to be involved in OHSS. In PGR and TP53, heterozygous alterations were detected. PGR is predicted to be involved in progesterone resistance with a recessive inheritance pattern and is, therefore, not considered as being causal. The consequences of the variant detected in TP53 currently remain unknown. In part 2 of the study, we assessed the clinical significance of variants in genes previously not linked to OHSS. We especially focused on genes with variants present in ≥ 2 patients. Two patients have variants in the FLT4 gene. Mutations in this gene are linked to hereditary lymphedema, but no link to OHSS has been described.CONCLUSIONS: Defining a genetic predisposition for OHSS is essential in view of prevention. In this study, a potential link between the FLT4 gene and OHSS has been suggested. Future functional studies are essential to define a more precise involvement of the detected variants in the development of OHSS.",
keywords = "FLT4, Genetic predisposition, OHSS, VEGFR3",
author = "Katrien Stouffs and Sari Daelemans and Samuel Santos-Ribeiro and Sara Seneca and Alexander Gheldof and G{\"u}rb{\"u}z, {Ali Sami} and {De Vos}, Michel and Herman Tournaye and Christophe Blockeel",
year = "2019",
month = "3",
doi = "10.1007/s10815-018-1372-5",
language = "English",
volume = "36",
pages = "491--497",
journal = "Journal of Assisted Reproduction and Genetics",
issn = "1058-0468",
publisher = "Springer New York",
number = "3",

}

RIS

TY - JOUR

T1 - Rare genetic variants potentially involved in ovarian hyperstimulation syndrome

AU - Stouffs, Katrien

AU - Daelemans, Sari

AU - Santos-Ribeiro, Samuel

AU - Seneca, Sara

AU - Gheldof, Alexander

AU - Gürbüz, Ali Sami

AU - De Vos, Michel

AU - Tournaye, Herman

AU - Blockeel, Christophe

PY - 2019/3

Y1 - 2019/3

N2 - PURPOSE: We aim to investigate whether there is a genetic predisposition in women who developed ovarian hyperstimulation syndrome (OHSS) after GnRH antagonist protocol with GnRH agonist trigger and freeze-all approach.METHODS: Four patients with OHSS after GnRH agonist trigger and freeze-all approach were gathered from the worldwide patient population. These patients were analyzed through Whole Exome Sequencing. In this study known causes of OHSS were investigated and new causes present in at least two individuals were searched for.RESULTS: In the first part of the study, we evaluated the presence of mutations in genes already known to be involved in OHSS. In PGR and TP53, heterozygous alterations were detected. PGR is predicted to be involved in progesterone resistance with a recessive inheritance pattern and is, therefore, not considered as being causal. The consequences of the variant detected in TP53 currently remain unknown. In part 2 of the study, we assessed the clinical significance of variants in genes previously not linked to OHSS. We especially focused on genes with variants present in ≥ 2 patients. Two patients have variants in the FLT4 gene. Mutations in this gene are linked to hereditary lymphedema, but no link to OHSS has been described.CONCLUSIONS: Defining a genetic predisposition for OHSS is essential in view of prevention. In this study, a potential link between the FLT4 gene and OHSS has been suggested. Future functional studies are essential to define a more precise involvement of the detected variants in the development of OHSS.

AB - PURPOSE: We aim to investigate whether there is a genetic predisposition in women who developed ovarian hyperstimulation syndrome (OHSS) after GnRH antagonist protocol with GnRH agonist trigger and freeze-all approach.METHODS: Four patients with OHSS after GnRH agonist trigger and freeze-all approach were gathered from the worldwide patient population. These patients were analyzed through Whole Exome Sequencing. In this study known causes of OHSS were investigated and new causes present in at least two individuals were searched for.RESULTS: In the first part of the study, we evaluated the presence of mutations in genes already known to be involved in OHSS. In PGR and TP53, heterozygous alterations were detected. PGR is predicted to be involved in progesterone resistance with a recessive inheritance pattern and is, therefore, not considered as being causal. The consequences of the variant detected in TP53 currently remain unknown. In part 2 of the study, we assessed the clinical significance of variants in genes previously not linked to OHSS. We especially focused on genes with variants present in ≥ 2 patients. Two patients have variants in the FLT4 gene. Mutations in this gene are linked to hereditary lymphedema, but no link to OHSS has been described.CONCLUSIONS: Defining a genetic predisposition for OHSS is essential in view of prevention. In this study, a potential link between the FLT4 gene and OHSS has been suggested. Future functional studies are essential to define a more precise involvement of the detected variants in the development of OHSS.

KW - FLT4

KW - Genetic predisposition

KW - OHSS

KW - VEGFR3

UR - http://www.scopus.com/inward/record.url?scp=85057326763&partnerID=8YFLogxK

U2 - 10.1007/s10815-018-1372-5

DO - 10.1007/s10815-018-1372-5

M3 - Article

VL - 36

SP - 491

EP - 497

JO - Journal of Assisted Reproduction and Genetics

JF - Journal of Assisted Reproduction and Genetics

SN - 1058-0468

IS - 3

ER -

ID: 41102049