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Primary Ovarian Insufficiency - Wiley Online Library

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Last Updated: 07 February 2022

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A SPIDR homozygous nonsense pathogenic variant in isolated primary ovarian insufficiency with chromosomal instability

Primary ovarian insufficiency, which affects 1% of women under the age of 40 years, is a public health issue. In exon 7 of SPIDR c. 814C > T, R272*, we found a novel homozygous nonsense variant, which is expected to cause a nonsense-mediated mRNA decay. This is the first evidence of chromosomal instability related to a SPIDR molecular defect, which supports the role of SPIDR in DNA repair in vivo in humans and its causal involvement in POI.

Source link: https://onlinelibrary.wiley.com/doi/10.1111/cge.14080

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions