ArticleJournal of assisted reproduction and genetics2023
A novel heterozygous variant in PANX1 causes primary infertility due to oocyte death.
Article in Journal of assisted reproduction and genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 6 citations in OpenAlex.
- Advances in the genetic etiology of female infertility.Journal of assisted reproduction and genetics · 2024Review
- Novel splicing mutations in PATL2 and WEE2 cause oocyte degradation and fertilization failure.Journal of assisted reproduction and genetics · 2024Article
- A novel heterozygous missense variant of PANX1 causes human oocyte death and female infertility.Journal of ovarian research · 2024Article
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Authors and funding
6 authors at 1 institution in 1 country.
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Abstract
purposeVariants in the pannexin1 (PANX1) gene have been reported to be associated with oocyte death and recurrent in vitro fertilization failure. In this study, we performed genetic analysis in the patient with female infertility due to oocyte death to identify the disease-causing gene variant in the patient.
methodsWe characterized one patient from a non-consanguineous family who had suffered from oocyte death and female infertility. Whole-exome sequencing and Sanger sequencing were used to identify the variant in the family. Western blot analysis was used to check the effect of the variant on PANX1 glycosylation pattern in vitro.
resultsWe identified a novel heterozygous PANX1 variant (NM_015368.4 c.976_978del, (p.Asn326del)) associated with the phenotype of oocyte death in a non-consanguineous family, followed by an autosomal dominant (AD) mode. This variant showed a more delayed emergence of oocyte death than previously reported articles. Western blot analysis confirmed that the deletion variant of PANX1 (c.976_978del) altered the glycosylation pattern in HeLa cells.
conclusionsOur findings expand the variant spectrum of PANX1 genes associated with oocyte death and provide new support for the genetic diagnosis of female infertility.
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