ArticleJournal of assisted reproduction and genetics2022
A novel heterozygous variant in PANX1 is associated with oocyte death and female infertility.
Article in Journal of assisted reproduction and genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 7 citations in OpenAlex.
- Novel missense variants in COX15 cause oocyte degeneration and female infertility.Journal of assisted reproduction and genetics · 2026Article
- Advances in the genetic etiology of female infertility.Journal of assisted reproduction and genetics · 2024Review
- A novel heterozygous missense variant of PANX1 causes human oocyte death and female infertility.Journal of ovarian research · 2024Article
- A novel heterozygous variant in PANX1 causes primary infertility due to oocyte death.Journal of assisted reproduction and genetics · 2023Article
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Authors and funding
15 authors at 1 institution in 1 country.
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Abstract
purposeOocyte death is a severe clinical phenotype that causes female infertility and recurrent in vitro fertilization and intracytoplasmic sperm injection failure. We aimed to identify pathogenic variants in a female infertility patient with oocyte death phenotype.
methodsSanger sequencing was performed to screen PANX1 variants in the affected patient. Western blot analysis was used to check the effect of the variant on PANX1 glycosylation pattern in vitro.
resultsWe identified a novel PANX1 variant (NM_015368.4 c.86G > A, (p. Arg29Gln)) associated with the phenotype of oocyte death in a non-consanguineous family. This variant displayed an autosomal dominant inheritance pattern with reduced penetrance. Western blot analysis confirmed that the missense mutation of PANX1 (c.86G > A) altered the glycosylation pattern in HeLa cells. Moreover, the mutation effects on the function of PANX1 were weaker than recently reported variants.
conclusionOur findings expand the inheritance pattern of PANX1 variants to an autosomal dominant mode with reduced penetrance and enrich the variational spectrum of PANX1. These results help us to better understand the genetic basis of female infertility with oocyte death.
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