A novel heterozygous variant in PANX1 is associated with oocyte death and female infertility

Purpose Oocyte 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. Methods Sanger sequencing was pe...

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Bibliographic Details
Published in:Journal of assisted reproduction and genetics 2022-08, Vol.39 (8), p.1901-1908
Main Authors: Wu, Xing-Wu, Liu, Pei-Pei, Zou, Yang, Xu, Ding-Fei, Zhang, Zhi-Qin, Cao, Li-Yun, Lu-Fan, Xia, Lei-Zhen, Huang, Jia-lv, Chen, Jia, Xin, Cai-Lin, Huang, Zhi-Hui, Tan, Jun, Wu, Qiong-Fang, Li, Zeng-Ming
Format: Article
Language:English
Subjects:
Autosomal dominant inheritance
Connexins - genetics
Death
Female
Genetics
Genotype & phenotype
Glycosylation
Gynecology
HeLa Cells
Heredity
Heterozygote
Human Genetics
Humans
In vitro fertilization
Infertility
Infertility, Female - pathology
Male
Medicine
Medicine & Public Health
Missense mutation
Mutation
Nerve Tissue Proteins - genetics
Oocytes - pathology
Patients
Phenotypes
Reproductive Medicine
Semen
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Summary:Purpose Oocyte 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. Methods Sanger 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. Results We 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. Conclusion Our 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.
ISSN:1058-0468
1573-7330
DOI:10.1007/s10815-022-02566-1