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37 min
1. Copy number variation- Prof. Steve Scherer
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17 min
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32 min
3. CNVs in human genomes- Prof. Chris Ponting
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32 min
4. Gene copy number variation in human and primate evolution- Prof. James Sikela
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64 min
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44 min
6. CNVs and clinical diagnosis- Dr. Brynn Levy
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43 min
7. Quantitative CNV testing in molecular diagnostics- Prof. Dimitri J. Stavropoulos
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33 min
8. Mendelian CNV mutations- Prof. Joris Vermeesch
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40 min
9. Copy number variation in neuropsychiatric disorders- Dr. Christian Marshall
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41 min
10. Copy number variation in association studies of human disease- Dr. Steven McCarroll
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21 min
11. Ethical considerations in dealing with CNV information- Dr. Holly Tabor
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38 min
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31 min
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31 min
- Archived Lectures *These may not cover the latest advances in the field
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26 min
15. Population genetics of structural variation- Dr. Don Conrad
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47 min
16. Databases for CNV in control and disease populations- Dr. Lars Feuk
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45 min
17. Copy number variation in mental retardation- Dr. Joris Veltman
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35 min
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34 min
19. Structural variants and susceptibility to common human disorders- Prof. Xavier Estivill
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40 min
20. Indels, CNVs and the spectrum of human genome variation- Prof. Samuel Levy
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36 min
21. Genome structure and expression- Prof. Alexandre Reymond
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39 min
22. Quantitative CNV testing in molecular diagnostics- Prof. Martin Somerville
Printable Handouts
Navigable Slide Index
- Introduction
- The array CGH revolution
- Which imbalances are causal for the phenotype
- Identifying recurrent imbalances and phenotypes
- The larger the size, the more likely causal (1)
- The larger the size, the more likely causal (2)
- Population embedded CNVs are benign
- GV Database: map all "benign" variation
- Inherited imbalances - benign; de novo - causal
- Mendelian CNVs: a paradigm shift in genetics
- Mendelian CNVs: new wine in old bottles
- Some conventions
- More conventions
- Autosomal recessive CNVs (1)
- An example: Cohen syndrome
- Spastic ataxia of Charlevoix-Saguenay
- Inherited mutation, de novo deletion
- Autosomal recessive CNVs (2)
- Autosomal dominant CNVs (1)
- Autosomal dominant CNVs (2)
- An amplification linked to inherited microtia (1)
- An amplification linked to inherited microtia (2)
- Analysis of the disease
- X-linked CNVs
- MECP2 duplication
- ATR-X syndrome
- Imprinted CNVs (1)
- Prader-Willi/Angelman region
- Imprinted CNVs (2)
- Variable expressivity and incomplete penetrance
- 16p13.1 deletions and duplications
- TAR and 1q21.1 syndromes
- Conclusion
- Acknowledgments
Topics Covered
- Copy number variation has now been shown to be a major cause of human genetic variation
- It has been implicated as the main cause of mental retardation disorders
- The boundary between benign and malignant copy number variations is blurring
- This is because certain CNVs can be benign but cause genetic disorders dependent on copy number state, sex and genetic background
- We coin them "Mendelian CNVs"
- An overview of autosomal recessive, dominant, X-linked and imprinted CNVs
- Diagnostic and clinical consequences
Talk Citation
Vermeesch, J. (2009, August 30). Mendelian CNV mutations [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved December 26, 2024, from https://doi.org/10.69645/DHOM8610.Export Citation (RIS)
Publication History
Financial Disclosures
- Prof. Joris Vermeesch has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
Mendelian CNV mutations
Published on August 30, 2009
33 min
