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A novel homozygous variant in PADI6 is associate with human cleavage-stage embryonic arrest

Frontiers in Genetics, ISSN: 1664-8021, Vol: 14, Page: 1243230
2023
  • 2
    Citations
  • 0
    Usage
  • 7
    Captures
  • 1
    Mentions
  • 0
    Social Media
Metric Options:   Counts1 Year3 Year

Metrics Details

  • Citations
    2
  • Captures
    7
  • Mentions
    1
    • News Mentions
      1
      • 1

Most Recent News

Studies from Nanjing University in the Area of Genetics Described (A novel homozygous variant in PADI6 is associate with human cleavage-stage embryonic arrest)

2023 SEP 07 (NewsRx) -- By a News Reporter-Staff News Editor at NewsRx Life Science Daily -- Data detailed on genetics have been presented. According

Article Description

Repeated absence of useable embryos is a difficult problem for infertility patients. Among them, embryonic developmental arrest is more common, but the genetic cause is not known. The embryos of a patient who came to our hospital three times could not develop beyond the four-cell stage. In addition to recording the developmental details of the embryos by daily photo-taking, the PADI6 homozygous variants was further confirmed by whole-exome sequencing. Subsequently, PADI6 was analyzed by bioinformatics methods for conservativeness across species. In addition, the possible impact of the pathogenic mutation on the structure of the protein PADI6 were also assessed. Generally, we identified a homozygous variants [NM_207421.4, c.394C>T(p.R132C] in the middle protein-arginine deiminase domain in PADI6 gene. The homozygous variant is highly conserved across species. Homozygous variant in PADI6 could cause a human cleavage-stage embryonic arrest in female patients. These findings provide further evidence for the important roles of the homozygous PADI6 variant in embryonic development. Our findings contribute to a deeper understanding of the molecular genetic basis of female infertility.

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