Homozygous Splice Site Mutation in
female infertility
immature oocytes
oocyte maturation defect
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
01 04 2020
01 04 2020
Historique:
received:
10
02
2020
revised:
24
03
2020
accepted:
26
03
2020
entrez:
5
4
2020
pubmed:
5
4
2020
medline:
27
3
2021
Statut:
epublish
Résumé
In vitro fertilization (IVF) involves controlled ovarian hyperstimulation using hormones to produce large numbers of oocytes. The success of IVF is tightly linked to the availability of mature oocytes. In most cases, about 70% to 80% of the oocytes are mature at the time of retrieval, however, in rare instances, all of them may be immature, implying that they were not able to reach the metaphase II (MII) stage. The failure to obtain any mature oocytes, despite a well conducted ovarian stimulation in repeated cycles is a very rare cause of primary female infertility, for which the underlying suspected genetic factors are still largely unknown. In this study, we present the whole exome sequencing analysis of a consanguineous Turkish family comprising three sisters with a recurrent oocyte maturation defect. Analysis of the data reveals a homozygous splice site mutation (c.1775-3C>A) in the zona pellucida glycoprotein 1 (
Identifiants
pubmed: 32244758
pii: genes11040382
doi: 10.3390/genes11040382
pmc: PMC7231235
pii:
doi:
Substances chimiques
RNA Splice Sites
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
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