Application of copy number variation sequencing combined with whole exome sequencing in prenatal left–right asymmetry disorders
Abstract Background Left–right (LR) asymmetry disorders present a complex etiology, with genetic factors emerging as a primary contributor. This study aims to explore the genetic underpinnings of chromosomal variants and individual genes in fetuses afflicted with prenatal LR asymmetry disorder. Meth...
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2025-01-01
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| Online Access: | https://doi.org/10.1186/s12864-025-11277-7 |
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| author | Yu Qin Muon Senglong Koksear Touch Juan Xiao Ruijie Fang Qingling kang Lei Fan Shufang Li Jing Liu Jianli Wu Yuanyuan Wu Xinwei Shi Haiyi Liu Xun Gong Xingguang Lin Ling Feng Suhua Chen Wei Li |
| author_facet | Yu Qin Muon Senglong Koksear Touch Juan Xiao Ruijie Fang Qingling kang Lei Fan Shufang Li Jing Liu Jianli Wu Yuanyuan Wu Xinwei Shi Haiyi Liu Xun Gong Xingguang Lin Ling Feng Suhua Chen Wei Li |
| author_sort | Yu Qin |
| collection | DOAJ |
| description | Abstract Background Left–right (LR) asymmetry disorders present a complex etiology, with genetic factors emerging as a primary contributor. This study aims to explore the genetic underpinnings of chromosomal variants and individual genes in fetuses afflicted with prenatal LR asymmetry disorder. Methods Through a retrospective analysis conducted between 2020 and 2023 at Tongji Hospital, Huazhong University of Science and Technology, genetic outcomes of LR asymmetric disorder were scrutinized utilizing copy number variation sequencing (CNV-seq) and whole exome sequencing (WES) methodologies. Results With a combination of CNV-seq and WES, 5 fetuses in 17 patients with LR asymmetry had chromosomal or genetic variants. CNV-seq revealed a 16p11.2 microdeletion syndrome in a situs inversus fetus presenting pathogenic and a 2q36.3 microduplication syndrome in a fetus with Heterotaxy presenting a variant of uncertain significance (VUS). WES identified NM_198075.4:c.755del in the LRRC56 gene and NM_001454.4:c.865_868dup in the FOXJ1 gene in two situs inversus cases, along with two variants in DNAH5 in two other fetuses. Further bioinformatics scrutiny was conducted to assess the protein structure and function prediction of these variants, ultimately indicating their potential pathogenicity. Conclusion The study highlights that fetuses with LR asymmetric disorders may have copy number variants, underscoring the significance of mutations in LRRC56 and FOXJ1 in the development of LR asymmetry disorders. |
| format | Article |
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| institution | Kabale University |
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| language | English |
| publishDate | 2025-01-01 |
| publisher | BMC |
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| series | BMC Genomics |
| spelling | doaj-art-fe2af4e7ad1a4af2b62eb7af0307c4c12025-02-02T12:10:09ZengBMCBMC Genomics1471-21642025-01-0126111210.1186/s12864-025-11277-7Application of copy number variation sequencing combined with whole exome sequencing in prenatal left–right asymmetry disordersYu Qin0Muon Senglong1Koksear Touch2Juan Xiao3Ruijie Fang4Qingling kang5Lei Fan6Shufang Li7Jing Liu8Jianli Wu9Yuanyuan Wu10Xinwei Shi11Haiyi Liu12Xun Gong13Xingguang Lin14Ling Feng15Suhua Chen16Wei Li17Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyDepartment of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyDepartment of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyDepartment of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyDepartment of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyDepartment of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyDepartment of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyDepartment of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyDepartment of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyDepartment of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyDepartment of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyDepartment of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyDepartment of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyDepartment of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyDepartment of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyDepartment of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyDepartment of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyDepartment of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyAbstract Background Left–right (LR) asymmetry disorders present a complex etiology, with genetic factors emerging as a primary contributor. This study aims to explore the genetic underpinnings of chromosomal variants and individual genes in fetuses afflicted with prenatal LR asymmetry disorder. Methods Through a retrospective analysis conducted between 2020 and 2023 at Tongji Hospital, Huazhong University of Science and Technology, genetic outcomes of LR asymmetric disorder were scrutinized utilizing copy number variation sequencing (CNV-seq) and whole exome sequencing (WES) methodologies. Results With a combination of CNV-seq and WES, 5 fetuses in 17 patients with LR asymmetry had chromosomal or genetic variants. CNV-seq revealed a 16p11.2 microdeletion syndrome in a situs inversus fetus presenting pathogenic and a 2q36.3 microduplication syndrome in a fetus with Heterotaxy presenting a variant of uncertain significance (VUS). WES identified NM_198075.4:c.755del in the LRRC56 gene and NM_001454.4:c.865_868dup in the FOXJ1 gene in two situs inversus cases, along with two variants in DNAH5 in two other fetuses. Further bioinformatics scrutiny was conducted to assess the protein structure and function prediction of these variants, ultimately indicating their potential pathogenicity. Conclusion The study highlights that fetuses with LR asymmetric disorders may have copy number variants, underscoring the significance of mutations in LRRC56 and FOXJ1 in the development of LR asymmetry disorders.https://doi.org/10.1186/s12864-025-11277-7Left–Right asymmetry disorderSitus InversusHeterotaxyCopy number variant sequencingWhole exome sequencing |
| spellingShingle | Yu Qin Muon Senglong Koksear Touch Juan Xiao Ruijie Fang Qingling kang Lei Fan Shufang Li Jing Liu Jianli Wu Yuanyuan Wu Xinwei Shi Haiyi Liu Xun Gong Xingguang Lin Ling Feng Suhua Chen Wei Li Application of copy number variation sequencing combined with whole exome sequencing in prenatal left–right asymmetry disorders BMC Genomics Left–Right asymmetry disorder Situs Inversus Heterotaxy Copy number variant sequencing Whole exome sequencing |
| title | Application of copy number variation sequencing combined with whole exome sequencing in prenatal left–right asymmetry disorders |
| title_full | Application of copy number variation sequencing combined with whole exome sequencing in prenatal left–right asymmetry disorders |
| title_fullStr | Application of copy number variation sequencing combined with whole exome sequencing in prenatal left–right asymmetry disorders |
| title_full_unstemmed | Application of copy number variation sequencing combined with whole exome sequencing in prenatal left–right asymmetry disorders |
| title_short | Application of copy number variation sequencing combined with whole exome sequencing in prenatal left–right asymmetry disorders |
| title_sort | application of copy number variation sequencing combined with whole exome sequencing in prenatal left right asymmetry disorders |
| topic | Left–Right asymmetry disorder Situs Inversus Heterotaxy Copy number variant sequencing Whole exome sequencing |
| url | https://doi.org/10.1186/s12864-025-11277-7 |
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