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Published on: August 15, 2019
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Human Genetics of Defects of Situs
Andreas Perrot1, Silke Rickert-Sperling2
1Experimental and Clinical Research Center, a cooperation between the Max Delbrück Center for Molecular Medicine in the Helmholtz Association and Charité Universitätsmedizin Berlin, Berlin, Germany.
Advances in Experimental Medicine and Biology
|June 17, 2024
Summary
Situs defects disrupt organ arrangement and are linked to congenital heart defects. Genetic mutations in various molecular components contribute to these conditions, highlighting a broad genetic heterogeneity.
Area of Science:
- Developmental Biology
- Human Genetics
- Congenital Heart Disease
Background:
- Situs defects involve abnormal arrangement of thoracic and abdominal organs, often associated with complex congenital heart defects.
- Understanding embryonic left-right axis formation is crucial for studying these developmental abnormalities.
- Numerous genetic factors have been implicated in heterotaxy and situs defects.
Purpose of the Study:
- To review the genetic heterogeneity of situs defects.
- To highlight the molecular mechanisms underlying embryonic left-right axis formation.
- To discuss the overlap between genes involved in situs defects and other congenital heart diseases.
Main Methods:
- Review of recent human genomics studies on situs defects.
- Analysis of mutations affecting molecular components like transcription factors, signaling molecules, chromatin modifiers, and ciliary proteins.
- Examination of gene overlap with other congenital heart diseases.
Main Results:
- Mutations in at least 33 different genes are identified in individuals with heterotaxy and situs defects.
- These mutations impact a wide array of molecular pathways essential for development.
- Significant overlap exists between genes causing situs defects and those linked to conditions like tetralogy of Fallot and transposition of the great arteries.
Conclusions:
- Situs defects represent a genetically heterogeneous group of disorders.
- Genetic factors influencing left-right axis formation play a critical role in congenital heart development.
- Further genomic research is essential for a comprehensive understanding of these complex conditions.
Keywords:
ACVR2BAtrioventricular septal defectsCFC1CNVsCRELD1Cardiac transcription factorsCiliary genesCopy-number variationsDNAH11DNAH5DNAH6DNAI1DextrocardiaDouble-outlet right ventricleGATA4GDF1HeterotaxyHistone-modifying genesKartagener syndromeLEFTY2MMP21MNS1Motile ciliaNKX2–5NME7NODALNPHPNPHP2NPHP3NPHP4NUP205NUP210NephronophthisisPCDPKD1L1PKD2Primary ciliaPrimary ciliary dyskinesiaSHROOM3Signaling pathwaysSitus ambiguusSitus defectsSitus inversusTetralogy of FallotWDR16Whole-exome sequencingZIC3d-Transposition of the great arteriesMore Related Videos
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