FBXO43 variants in patients with female infertility characterized by early embryonic arrest

Weijie Wang; Wenjing Wang; Yao Xu; Juanzi Shi; Jing Fu; Biaobang Chen; Jian Mu; Zhihua Zhang; Lin Zhao; Jing Lin; Jing Du; Qiaoli Li; Lin He; Jin Li; Xiaoxi Sun; Lei Wang; Qing Sang

doi:10.1093/humrep/deab131

April 30, 2021Human Reproduction

FBXO43 variants in patients with female infertility characterized by early embryonic arrest

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Key Points

To identify novel genetic factors and underlying molecular mechanisms responsible for early embryonic arrest in female infertility patients.
Conducted whole-exome sequencing and homozygosity mapping in 24 consanguineous probands, followed by variant screening across 950 infertile women with early embryonic arrest recruited between August 2016 and May 2020.
Assessed functional effects of identified variants by measuring protein and Cyclin B1 levels in HEK293T cells and evaluating parthenogenetic rescue capacity via complementary RNA microinjection into Fbxo43-knockdown mouse oocytes.
Identified three homozygous loss-of-function variants in FBXO43—c.1490_1497dup (p.Glu500Serfs*2), c.1747C>T (p.Gln583*), and c.154delG (p.Asp52Thrfs*30)—in three independent families.
Demonstrated that all three variants substantially depleted FBXO43 protein levels and suppressed expression of its downstream cell-cycle target Cyclin B1 in HEK293T cells.
Confirmed that the mutant FBXO43 proteins compromised the rescue of parthenogenetic activation phenotypes in Fbxo43-depleted mouse oocytes.

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Implication

Exome sequencing study uncovers pathogenic homozygous FBXO43 variants in infertile women, indicating that impaired FBXO43 regulation causes early embryonic arrest.

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Cite This Study

Wang et al. (2021) studied this question.

synapsesocial.com/papers/6aae28f4f37176e322fef588 https://doi.org/10.1093/humrep/deab131

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FBXO43 variants in patients with female infertility characterized by early embryonic arrest

Key Points

No abstract yet

Implication

Discussion

Cite This Study

FBXO43 variants in patients with female infertility characterized by early embryonic arrest

Key Points

No abstract yet

Implication

Discussion

Cite This Study

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