Confined placental mosaicism involving multiple de novo copy number variants associated with fetal growth restriction: A case report.
Del Gobbo. Giulia F GF; Yuan. Victor V; Robinson. Wendy P WP
Key Findings
- Eight de novo duplications (2.4‑3.9 Mb each) were detected in placental tissue.
- The duplicated region included the KISS1 gene, which is linked to placental function.
- The copy‑number variants were mosaic, affecting only some placental cells, and did not arise from known recombination or epigenetic mechanisms.
Practical Outcomes
- For biohackers or self‑experimenters, this case report offers no actionable insight about using kisspeptin‑10 for health, longevity, or performance. It simply highlights a rare genetic anomaly that caused fetal growth restriction, without suggesting any therapeutic or supplementation strategies.
Summary
A newborn boy with very low birth weight was found to have many large, new DNA duplications in his placenta, including extra copies of the KISS1 gene. These genetic changes were mosaic (present in some placental cells but not all) and likely caused the growth problems. The study shows how complex and poorly understood placental genetics can be.
Abstract
The presence of multiple large (>1 Mb) copy number variants (CNVs) in non-malignant tissue is rare in human genetics. We present a liveborn male with a birth weight below the first percentile associated with placental mosaicism involving eight 2.4-3.9 Mb de novo duplications. We found that the duplications likely co-localized to the same cells, were mosaic in the placenta, and impacted maternal and paternal chromosomes. In addition, 27.4 Mb and 240 genes were duplicated in affected cells, including candidate placental genes KISS1 and REN. We ruled out involvement of homologous recombination-based mechanisms or an altered epigenome in generating the CNVs. This case highlights the diversity of genetic abnormalities in the human placenta and the gaps in our knowledge of how such errors arise.
Study Information
pubmed
2021
2021-03-22T00:00:00.000Z
10.1002/ajmg.a.62183
3
27