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Mutation of HERC2 causes developmental delay with Angelman-like features
Gaurav V Harlalka1, Emma L Baple, Harold Cross
1Centre for Human Genetics, St George's University of London, London, UK.
Journal of Medical Genetics
|December 18, 2012
Summary
Mutations in the HERC2 gene cause a neurodevelopmental disorder by reducing HERC2 protein levels, impacting E6AP activity and leading to Angelman syndrome-like symptoms.
Area of Science:
- Genetics
- Neurodevelopmental Disorders
- Molecular Biology
Background:
- Deregulation of ubiquitin ligase E6AP (UBE3A) is linked to Angelman syndrome (AS).
- HERC2, a ubiquitin ligase gene, is a potential key regulator of E6AP activity.
Purpose of the Study:
- Investigate an autosomal-recessive neurodevelopmental disorder with AS-like features.
- Identify the genetic cause and molecular mechanisms underlying the disorder.
Main Methods:
- Autozygosity mapping and linkage analysis in an Old Order Amish family.
- Molecular investigation to identify gene mutations.
- Protein stability and expression analysis.
Main Results:
- Identified a mutation in the HERC2 gene associated with the disorder.
- The mutant HERC2 protein has a reduced half-life and lower expression levels.
- Affected individuals show significantly reduced HERC2 protein levels.
Conclusions:
- Disruption of HERC2 function leads to reduced E6AP activity.
- This dysfunction contributes to neurodevelopmental delay.
- Suggests a novel role for HERC2 in the pathogenesis of Angelman syndrome.
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