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- Genetics of Developmental Disorders
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1. Imprinting disorders associated with molecular changes on chromosome 11p15
- Prof. Rosanna Weksberg
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2. Chromatin genes and disease
- Prof. Richard Gibbons
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3. Heterochromatin, epigenetics and gene expression
- Prof. Joel C. Eissenberg
- Cardiopulmonary Disease
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4. Transcription factors and complex disease development
- Dr. Ines Pineda-Torra
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5. Molecular genetics of pulmonary arterial hypertension
- Prof. Richard C. Trembath
- Neuromuscular System Diseases
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6. Gene therapy for the muscular dystrophies
- Prof. Jeff Chamberlain
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7. RAS pathway and disease: neurofibromatosis and beyond
- Prof. Eric Legius
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8. Congenital syndromes of pain and painlessness
- Prof. Geoff Woods
- Prof. James Cox
- Endocrinology and Metabolism
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9. Changing lives: stratified medicine in monogenic diabetes
- Prof. Andrew Hattersley
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10. Genetics of monogenic obesity 1
- Prof. Dr. Johannes Hebebrand
- Prof. Dr. Anke Hinney
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11. Genetics of monogenic obesity 2
- Prof. Dr. Johannes Hebebrand
- Prof. Dr. Anke Hinney
- Cancer Genetics
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13. Inherited predisposition to breast cancer
- Prof. Diana Eccles
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14. Genetics of breast and ovarian cancer
- Prof. Jeffrey Weitzel
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16. NF2-related Schwannomatosis and Gorlin Syndrome
- Prof. D. Gareth R. Evans
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17. The genetic basis of kidney cancer
- Dr. W. Marston Linehan
- Oligogenic and Complex Diseases
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18. Ciliopathies and oligogenic phenomena
- Prof. Nicholas Katsanis
- Therapy
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19. Mismatch repair deficient cancers & Lynch syndrome
- Prof. Sir John Burn
- Archived Lectures *These may not cover the latest advances in the field
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20. Mismatch repair deficient cancers: diagnosis, treatment and prevention
- Prof. Sir John Burn
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21. NF2 & Gorlins
- Prof. D. Gareth R. Evans
Printable Handouts
Navigable Slide Index
- Introduction
- Objectives
- What is epigenetics?
- Epigenetic regulation and genomic imprinting
- What is genomic imprinting
- Imprinted genes
- Imprinted genes in early development
- Cell type-specific epigenetic patterns
- Genomic organization of imprinted genes
- Imprinting center
- Imprinted domain 1 on chromosome 11p15.5
- Complexity of imprinted clusters
- Beckwith-Wiedemann syndrome (BWS)
- BWS: epidemiology
- BWS: clinical features
- BWS: complex, clinically heterogeneous disorder
- When do findings = diagnosis?
- Molecular basis of BWS
- Etiology of the BWS
- Molecular alterations associated with BWS
- Frequency of molecular alterations in BWS
- Does the molecular change make a difference?
- Clinical features and molecular etiology
- What are the risks to ART treated parents?
- Protection of marks during early development
- Subfertility/assisted reproductive technologies
- BWS molecular defects
- Multiple phenotypes associated with 11p15 UPD
- Somatic mosaicism
- Isolated hemihyperplasia
- High level constitutional UPD
- Sources of molecular testing strategies
- Laboratory testing for BWS
- MS-MLPA
- Expected methylation results from MS-MLPA
- MLPA molecular testing for BWS
- Example of a report
- Benefits of BWS molecular testing
- Cancer risk & surveillance
- Prenatal testing options
- Current Challenges in BWS molecular testing
- Duplications and deletions in 11p15.5
- Frequency of CNVs according to methylation
- Challenges in MS-MLPA and microarray tests
- BWS molecular diagnosis case
- Molecular diagnosis results
- Explaining the misclassification
- Monozygotic twins and BWS
- Recommendations for monozygotic twins
- Isolated hemihyperplasia
- Molecular testing and isolated hemihyperplasia
- 11p15 molecular testing (mosaicism)
- 11p15 molecular testing (asymmetry)
- Opposite imprinting alterations on 11p15
- Russell-Silver syndrome (RSS)
- Chromosomal regions associated with RSS
- BWS case with a history of IUGR
- Targeted assays of multiple imprinted loci-BWS
- Different combinations of epigenetic alterations
- Questions by a pregnant woman with BWS
- Pregnant woman molecular testing
- Imprint deregulation causing disease in humans
- Answers to referral questions
- Pregnant woman follow-up
- Acknowledgments
Topics Covered
- What is epigenetics?
- Epigenetic regulation forms the molecular basis for genomic imprinting
- What is genomic imprinting
- Imprinted genes in early development
- Genomic organization of imprinted genes
- Imprinting center
- Imprinted domain 1 on chromosome 11p15.5
- Complexity of imprinted clusters
- Beckwith-Wiedemann syndrome (BWS)
- BWS: a complex, clinically heterogeneous disorder
- Molecular basis of BWS
- Etiology of the Beckwith-Wiedemann syndrome
- Molecular alterations associated with BWS
- Frequency of molecular alterations in BWS
- The risks to subfertile/ART treated parents
- Subfertility/assisted reproductive technologies (ART)
- BWS molecular defects
- Multiple phenotypes associated with somatic mosaicism for 11p15 UPD
- Somatic mosaicism
- Isolated hemihyperplasia
- High level constitutional UPD
- BWS molecular testing strategies
- Laboratory testing for BWS
- MS-MLPA
- Expected methylation results from MS-MLPA
- MLPA molecular testing for BWS
- Cancer risk & surveillance
- Prenatal testing options
- Current challenges in BWS molecular testing
- Frequency of CNVs according to methylation pattern
- Monozygotic twins and BWS
- Isolated hemihyperplasia
- Current challenges in chromosome 11p15 molecular testing
- Russell-Silver syndrome (RSS
- Chromosomal regions associated with RSS
- Targeted assays of multiple imprinted loci-BWS
- Different combinations of epigenetic alterations associated with variations in clinical phenotype
- Imprint deregulation causing disease in humans
Links
Series:
Categories:
Talk Citation
Weksberg, R. (2014, September 3). Imprinting disorders associated with molecular changes on chromosome 11p15 [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved October 5, 2024, from https://doi.org/10.69645/GWDB6005.Export Citation (RIS)
Publication History
Financial Disclosures
- Prof. Rosanna Weksberg has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
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