Confined placental mosaicism involving multiple de novo copy number variants associated with fetal growth restriction: A case report.
Giulia F Del GobboVictor YuanWendy P RobinsonPublished in: American journal of medical genetics. Part A (2021)
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.
Keyphrases
- gene expression
- copy number
- dna methylation
- genome wide
- mitochondrial dna
- birth weight
- induced apoptosis
- endothelial cells
- cell cycle arrest
- gestational age
- weight gain
- dna damage
- induced pluripotent stem cells
- endoplasmic reticulum stress
- dna repair
- healthcare
- pluripotent stem cells
- oxidative stress
- signaling pathway
- pi k akt
- physical activity