Evidence map›Paper›PMID 41427249›Full record

ArticleFrontiers in genetics2025

Optical genome mapping uncovers clinically relevant structural variants in congenital heart disease with heterotaxy.

Shaojie Min, Jingwei Sun, Weicheng Chen, Zhiyu Feng, Quannan Zhuang, Yuan Gao, Siyi Lin, Siyu Sun, Yuquan Lu, Shuolin Li and 4 more

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Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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4 · The record

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5 · Who and what money

Authors and funding

14 authors.

Shaojie Min *Shanghai Key Laboratory of Birth Defects, Pediatric Heart Center, Children's Hospital of Fudan University, Shanghai, China.
Jingwei Sun *BengBu First People's Hospital, BengBu, China.
Weicheng ChenShanghai Key Laboratory of Birth Defects, Pediatric Heart Center, Children's Hospital of Fudan University, Shanghai, China.
Zhiyu FengShanghai Key Laboratory of Birth Defects, Pediatric Heart Center, Children's Hospital of Fudan University, Shanghai, China.
Quannan ZhuangShanghai Key Laboratory of Birth Defects, Pediatric Heart Center, Children's Hospital of Fudan University, Shanghai, China.
Yuan GaoShanghai Key Laboratory of Birth Defects, Pediatric Heart Center, Children's Hospital of Fudan University, Shanghai, China.
Siyi LinShanghai Key Laboratory of Birth Defects, Pediatric Heart Center, Children's Hospital of Fudan University, Shanghai, China.
Siyu SunShanghai Key Laboratory of Birth Defects, Pediatric Heart Center, Children's Hospital of Fudan University, Shanghai, China.
Yuquan LuShanghai Key Laboratory of Birth Defects, Pediatric Heart Center, Children's Hospital of Fudan University, Shanghai, China.
Shuolin LiShanghai Key Laboratory of Birth Defects, Pediatric Heart Center, Children's Hospital of Fudan University, Shanghai, China.
Xueying TianObstetrics and Gynecology Hospital, Institute of Reproduction and Development, Fudan University, Shanghai, China.
Guoying HuangShanghai Key Laboratory of Birth Defects, Pediatric Heart Center, Children's Hospital of Fudan University, Shanghai, China.
Wei ShengShanghai Key Laboratory of Birth Defects, Pediatric Heart Center, Children's Hospital of Fudan University, Shanghai, China.
Xianghui HuangShanghai Key Laboratory of Birth Defects, Pediatric Heart Center, Children's Hospital of Fudan University, Shanghai, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: The genetic factors underlying congenital heart disease and heterotaxy (CHD/HTX) are complex, including copy number variants, loss-of-function mutations, and missense variants, many of which can be detected by high-throughput sequencing. The screening for chromosomal structural variations (SVs) is another important strategy to understand the genetic etiology of CHD/HTX. Methods: We employed optical genome mapping (OGM), an innovative technique capable of capturing SVs often missed by traditional cytogenetic methods, to screen for SVs in 12 patients with complex CHD/HTX. Several patients had previously undergone chromosomal microarray analysis (CMA) or whole exome sequencing (WES), but their genetic diagnoses remained inconclusive. Results: By integrating data from CMA or WES, we analyzed potentially pathogenic SVs in patients with CHD/HTX. In total, we identified 825 high-confidence SVs, including 609 SVs (73.7%) located in intergenic regions or containing introns, pseudogenes, or RNA genes, while 217 (26.3%) overlapped the coding regions of genes. Analyzed through AnnotSV, DECIPHER and OMIM databases, 7 SVs of interest were identified, including: one previously reported pathogenic SV, three SVs overlapping established CHD/HTX associated genes ( Conclusion: Our findings highlight the utility of OGM in analyzing the genetic etiology of CHD/HTX and contribute to broadening of the complex genetic landscape underlying these diseases.

Indexed as

candidate genescongenital heart diseaseheterotaxyoptical genome mappingstructural variations

Identifiers

PMID41427249
PMCPMC12715421

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