A novel heterozygous variant in PANX1 is associated with oocyte death and female infertility
A novel heterozygous variant in PANX1 is associated with oocyte death and female infertility
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DOI：
10.1007/s10815-022-02566-1
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发表时间：
2022-07
影响因子：
3.1
通讯作者：
Xingwu Wu;Peipei Liu;Yang Zou;Dingfei Xu;Zhiqin Zhang;Li-Yun Cao;Lu-Fan;Leizhen Xia;Jia-lv Huang;Jia Chen;Cai-lin Xin;Zhihui Huang;Jun Tan;Qiongfang Wu;Zeng-ming Li
中科院分区：
文献类型：
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作者：
Xingwu Wu;Peipei Liu;Yang Zou;Dingfei Xu;Zhiqin Zhang;Li-Yun Cao;Lu-Fan;Leizhen Xia;Jia-lv Huang;Jia Chen;Cai-lin Xin;Zhihui Huang;Jun Tan;Qiongfang Wu;Zeng-ming Li
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.
