A recurrent ZP1 variant is responsible for oocyte maturation defect with degenerated oocytes in infertile females.
OMD
infertility
oocytes
zona pellucida
Journal
Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664
Informations de publication
Date de publication:
07 2022
07 2022
Historique:
revised:
08
04
2022
received:
19
01
2022
accepted:
19
04
2022
pubmed:
24
4
2022
medline:
16
6
2022
entrez:
23
4
2022
Statut:
ppublish
Résumé
A female factor is present in approximately 70% of couple infertility, often due to ovulatory disorders. In oocyte maturation defect (OMD), affected patients have a primary infertility with normal menstrual cycles but produce no oocyte, degenerated (atretic) or abnormal oocytes blocked at different stages of maturation. Four genes have so far been associated with OMD: PATL2, TUBB8, WEE2, and ZP1. In our initial study, 6 out of 23 OMD subjects were shown to carry the same PATL2 homozygous loss of function variant and one patient had a TUBB8 truncating variant. Here, we included four additional OMD patients and reanalyzed all 27 subjects. In addition to the seven patients with a previously identified defect, five carried the same deleterious homozygous ZP1 variant (c.1097G>A; p.Arg366Gln). All the oocytes from ZP1-associated patients appeared shriveled and dark indicating that the abnormal ZP1 protein induced oocyte death and degeneration. Overall ZP1-associated patients had degenerated or absent oocytes contrary to PATL2-associated subjects who had immature oocytes blocked mainly at the germinal vesicle stage. In this cohort of North African OMD patients, whole exome sequencing permitted to diagnose 44% of the patients studied and to identify a new frequent ZP1 variant.
Identifiants
pubmed: 35460069
doi: 10.1111/cge.14144
pmc: PMC9327729
doi:
Substances chimiques
TUBB8 protein, human
0
Tubulin
0
ZP1 protein, human
0
Zona Pellucida Glycoproteins
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
22-29Informations de copyright
© 2022 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.
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