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- Title
Identification of chromosomal abnormalities in miscarriages by CNV-Seq.
- Authors
Shao, Yuqi; Yang, Saisai; Cheng, Lin; Duan, Jie; Li, Jin; Kang, Jiawei; Wang, Fang; Liu, Juan; Zheng, Fang; Ma, Jianhong; Zhang, Yuanzhen
- Abstract
Objective: The primary object of this study is to analyze chromosomal abnormalities in miscarriages detected by copy number variants sequencing (CNV-Seq), establish potential pathways or genes related to miscarriages, and provide guidance for birth health in the following pregnancies. Methods: This study enrolled 580 miscarriage cases with paired clinical information and chromosomal detection results analyzed by CNV-Seq. Further bioinformatic analyses were performed on validated pathogenic CNVs (pCNVs). Results: Of 580 miscarriage cases, three were excluded as maternal cell contamination, 357 cases showed abnormal chromosomal results, and the remaining 220 were normal, with a positive detection rate of 61.87% (357/577). In the 357 miscarriage cases, 470 variants were discovered, of which 65.32% (307/470) were pathogenic. Among all variants detected, 251 were numerical chromosomal abnormalities, and 219 were structural abnormalities. With advanced maternal age, the proportion of numerical abnormalities increased, but the proportion of structural abnormalities decreased. Kyoto Encyclopedia of Genes and Genomes pathway and gene ontology analysis revealed that eleven pathways and 636 biological processes were enriched in pCNVs region genes. Protein–protein interaction analysis of 226 dosage-sensitive genes showed that TP53, CTNNB1, UBE3A, EP300, SOX2, ATM, and MECP2 might be significant in the development of miscarriages. Conclusion: Our study provides evidence that chromosomal abnormalities contribute to miscarriages, and emphasizes the significance of microdeletions or duplications in causing miscarriages apart from numerical abnormalities. Essential genes found in pCNVs regions may account for miscarriages which need further validation.
- Subjects
MATERNAL age; RECURRENT miscarriage; MISCARRIAGE; DNA copy number variations; HUMAN abnormalities; PREGNANCY; PROTEIN-protein interactions; GENE ontology
- Publication
Molecular Cytogenetics (17558166), 2024, Vol 17, Issue 1, p1
- ISSN
1755-8166
- Publication type
Article
- DOI
10.1186/s13039-024-00671-7