A systematic review and evidence assessment of monogenic gene-disease relationships in human female infertility and differences in sex development.
Fiche publication
Date publication
décembre 2022
Journal
Human reproduction update
Auteurs
Membres identifiés du Cancéropôle Est :
Pr VIVILLE Stéphane
Tous les auteurs :
Van Der Kelen A, Okutman Ö, Javey E, Serdarogullari M, Janssens C, Ghosh MS, Dequeker BJH, Perold F, Kastner C, Kieffer E, Segers I, Gheldof A, Hes FJ, Sermon K, Verpoest W, Viville S
Lien Pubmed
Résumé
As in other domains of medicine, high-throughput sequencing methods have led to the identification of an ever-increasing number of gene variants in the fields of both male and female infertility. The increasing number of recently identified genes allows an accurate diagnosis for previously idiopathic cases of female infertility and more appropriate patient care. However, robust evidence of the gene-disease relationships (GDR) allowing the proper translation to clinical application is still missing in many cases.
Mots clés
ART, clinical validation, differences in sex development, female infertility, gene–disease relationship, medically assisted reproduction, monogenic, reproductive genetics, systematic review
Référence
Hum Reprod Update. 2022 12 26;: