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Fbxo43 variants in patients with female infertility characterized by early embryonic arrest

Human Reproduction Jun 04, 2021

Wang W, Wang W, Xu Y, et al. - Researchers sought to determine whether in infertile patients, new genetic factors responsible for early embryonic arrest be identified, together with the mechanism of pathogenic variants. They conducted whole-exome sequencing (WES) and homozygosity mapping in 24 probands from consanguineous families who experienced early embryonic arrest, and identified two different homozygous variants in F-box protein 43 gene (FBXO43) in two independent families. For homozygous and compound heterozygous variants in FBXO43, they screened WES data from a further 950 infertile women with early embryonic arrest, and identified a third individual with an additional homozygous variant in FBXO43. Overall, three homozygous variants in the FBXO43 gene [(NM_001029860.4)—namely, c.1490_1497dup (p.(Glu500Serfs*2)), c.1747C>T (p.(Gln583*)), and c.154delG (p.(Asp52Thrfs*30))] were identified in infertile patients and there were studies on the effects of the variants in HEK293T cells and mouse oocytes yielding evidence for a causal relation between FBXO43 and female infertility.

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