Related Experiment Videos
Mutations in SEPT9 cause hereditary neuralgic amyotrophy
Gregor Kuhlenbäumer1, Mark C Hannibal, Eva Nelis
1Department of Neurology, University of Münster, Domagkstr. 3, D-48149 Münster, Germany. gkuhlen@uni-muenster.de
Nature Genetics
|September 28, 2005
Summary
Hereditary neuralgic amyotrophy (HNA), a brachial plexus neuropathy, is linked to mutations in the SEPT9 gene. This discovery identifies the first monogenetic cause within the septin gene family for this condition.
Area of Science:
- Genetics
- Neurology
- Molecular Biology
Background:
- Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant, recurrent neuropathy impacting the brachial plexus.
- HNA episodes are often precipitated by environmental factors like infections or childbirth.
Purpose of the Study:
- To identify the genetic basis of Hereditary neuralgic amyotrophy (HNA).
- To investigate the role of the SEPT9 gene in the pathogenesis of HNA.
Main Methods:
- Genetic analysis of six families affected by HNA.
- Linkage analysis to chromosome 17q25.
- Mutation screening of the SEPT9 gene.
Main Results:
- Three distinct mutations were identified in the SEPT9 gene in the studied families.
- HNA was linked to chromosome 17q25, implicating the SEPT9 gene.
- This study establishes HNA as the first monogenetic disorder associated with mutations in a septin family gene.
Conclusions:
- Mutations in the SEPT9 gene are a cause of Hereditary neuralgic amyotrophy (HNA).
- This finding highlights the role of septins in neural function and hereditary neuropathies.
- Septins, known for their roles in cytoskeleton dynamics, cell division, and tumorigenesis, are now implicated in HNA pathogenesis.