Exome sequencing in genuine empty follicle syndrome: Novel candidate genes.

Autor: Lledó B; Molecular Biology Department, Instituto Bernabeu, Alicante, Spain. Electronic address: blledo@institutobernabeu.com., Piqueras JJ; Molecular Biology Department, Instituto Bernabeu, Alicante, Spain., Lozano FM; Molecular Biology Department, Instituto Bernabeu, Alicante, Spain., Hortal M; Molecular Biology Department, Instituto Bernabeu, Alicante, Spain., Morales R; Molecular Biology Department, Instituto Bernabeu, Alicante, Spain., Ortiz JA; Molecular Biology Department, Instituto Bernabeu, Alicante, Spain., Guerrero J; Reproductive Biology Department, Instituto Bernabeu, Alicante, Spain., Benabeu A; Reproductive Medicine Department, Instituto Bernabeu, Alicante, Spain; Chair Community Medicine UMH and Health Reproductive, Miguel Hernández University, Alicante, Spain., Bernabeu R; Reproductive Medicine Department, Instituto Bernabeu, Alicante, Spain; Chair Community Medicine UMH and Health Reproductive, Miguel Hernández University, Alicante, Spain.
Jazyk: angličtina
Zdroj: European journal of obstetrics, gynecology, and reproductive biology [Eur J Obstet Gynecol Reprod Biol] 2024 Jun; Vol. 297, pp. 221-226. Date of Electronic Publication: 2024 Apr 23.
DOI: 10.1016/j.ejogrb.2024.04.029
Abstrakt: Objective(s): Empty follicle syndrome (EFS) is a condition in which no oocytes are retrieved in an IVF cycle despite apparently normal follicular development and meticulous follicular aspiration following ovulation induction. The EFS is called genuine (gEFS) when the trigger administration is correct. The existence of gEFS is a subject of controversy, and it is quite rare with an undetermined etiology. Genetic defects in specific genes have been demonstrated to be responsible for this condition in some patients. Our objective was to identify novel genetic variants associated with gEFS.
Study Design: We conducted a prospective observational study including 1,689 egg donors from July 2017 to February 2023. WES were performed in patients suffering gEFS.
Results: Only 7 patients (0.41 %) exhibited gEFS after two ovarian stimulation cycles and we subsequently performed whole exome sequencing (WES) on these patients. Following stringent filtering, we identified 6 variants in 5 affected patients as pathogenic in new candidate genes which have not been previously associated with gEFS before, but which are involved in important biological processes related to folliculogenesis. These genetic variants included c.603_618del in HMMR, c.1025_1028del in LMNB1, c.1091-1G > A in TDG, c.607C > T in HABP2, c.100 + 2 T > C in HAPLN1 and c.3592_3593del in JAG2.
Conclusion: As a conclusion, we identified new candidate genes related to gEFS that expand the mutational spectrum of genes related to gEFS.This study show that WES might be an efficient tool to identify the genetic etiology of gEFS and provide further understanding of the pathogenic mechanism of gEFS.
Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
(Copyright © 2024 Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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