ArticleHuman molecular genetics2009
Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.
Article in Human molecular genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
11 citing papers in PubMed, 33 citations in OpenAlex.
- Clinical Features and Prognosis of SEPTIN9-Related Hereditary Neuralgic Amyotrophy.European journal of neurology · 2026Observational
- Identification of a rare SEPT9 variant in a family with autosomal dominant Charcot-Marie-Tooth disease.BMC medical genetics · 2020Article
- Hereditary neuralgic amyotrophy in childhood caused by duplication within the SEPT9 gene: A family study.Cytoskeleton (Hoboken, N.J.) · 2019Article
- A homozygous genome-edited Sept2-EGFP fibroblast cell line.Cytoskeleton (Hoboken, N.J.) · 2019Article
- A rare cause of brachial plexopathy: hereditary neuralgic amyotrophy.Turk pediatri arsivi · 2019Article
- A Review of Copy Number Variants in Inherited Neuropathies.Current genomics · 2018Review
- Recommendations to enable drug development for inherited neuropathies: Charcot-Marie-Tooth and Giant Axonal Neuropathy.F1000Research · 2014Article
- Inherited neuropathies: clinical overview and update.Muscle & nerve · 2013Review
- Clinical and pathophysiological concepts of neuralgic amyotrophy.Nature reviews. Neurology · 2011Review
- Conquering the complex world of human septins: implications for health and disease.Clinical genetics · 2010Review
- Alternative splicing of sept9a and sept9b in zebrafish produces multiple mRNA transcripts expressed throughout development.PloS one · 2010Article
Corrections and comments
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Authors and funding
20 authors at 12 institutions in 2 countries.
Funding
Abstract
Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant disorder associated with recurrent episodes of focal neuropathy primarily affecting the brachial plexus. Point mutations in the SEPT9 gene have been previously identified as the molecular basis of HNA in some pedigrees. However in many families, including those from North America demonstrating a genetic founder haplotype, no sequence mutations have been detected. We report an intragenic 38 Kb SEPT9 duplication that is linked to HNA in 12 North American families that share the common founder haplotype. Analysis of the breakpoints showed that the duplication is identical in all pedigrees, and molecular analysis revealed that the duplication includes the 645 bp exon in which previous HNA mutations were found. The SEPT9 transcript variants that span this duplication contain two in-frame repeats of this exon, and immunoblotting demonstrates larger molecular weight SEPT9 protein isoforms. This exon also encodes for a majority of the SEPT9 N-terminal proline rich region suggesting that this region plays a role in the pathogenesis of HNA.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.