ArticleArchives of neurology2009
SEPT9 mutations and a conserved 17q25 sequence in sporadic and hereditary brachial plexus neuropathy.
Article in Archives of neurology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 19 citations in OpenAlex.
- Parsonage-Turner syndrome: current perspectives on etiology, diagnosis, and management.Clinics in shoulder and elbow · 2026Article
- Article
- Case Report: Parsonage-Turner syndrome due to SEPTIN9 mutation: report of an Italian family with childhood onset and review of the literature.Frontiers in pediatrics · 2025Article
- 17q25.3 copy number changes: association with neurodevelopmental disorders and cardiac malformation.Molecular cytogenetics · 2023Article
- A Review of Copy Number Variants in Inherited Neuropathies.Current genomics · 2018Review
- Inherited neuropathies: clinical overview and update.Muscle & nerve · 2013Review
- Surgical and postpartum hereditary brachial plexus attacks and prophylactic immunotherapy.Muscle & nerve · 2013Article
- Clinical and pathophysiological concepts of neuralgic amyotrophy.Nature reviews. Neurology · 2011Review
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundThe clinical characteristics of sporadic brachial plexus neuropathy (S-BPN) and hereditary brachial plexus neuropathy (H-BPN) are similar. During attacks, inflammation of the brachial plexus nerves has been identified in both conditions. SEPT9 mutations (Arg88Trp, Ser93Phe, 5'UTR c.-131G>C) occur in some families with H-BPN. These mutations were not found in North American kindreds with H-BPN with a conserved 500-kilobase sequence of DNA at the 17q25 chromosomal region (where SEPT9 localizes) where a founder mutation has been suggested.
objectiveTo study the 17q25 sequence and SEPT9 in S-BPN (56 individuals) and H-BPN (13 kindreds).
methodsAllele analysis at 17q25, SEPT9 DNA sequencing, and messenger RNA analysis from lymphoblast cultures were performed.
resultsA conserved 17q25 sequence was found in 5 of 13 kindreds with H-BPN and 1 individual with S-BPN. This conserved sequence was not found in the family with a SEPT9 mutation (Arg88Trp) or in 182 control subjects. SEPT9 messenger RNA expression levels did not differ between forms of H-BPN and control subjects. No known mutations of SEPT9 were found in S-BPN.
conclusionsRarely, individuals with S-BPN may have the same conserved 17q25 sequence found in many North American kindreds with H-BPN. Individuals with BPN with this conserved sequence do not seem to have SEPT9 mutations or alterations of messenger RNA expression levels in lymphoblast cultures and are predicted to have the most common genetic cause in North America by a founder-effect mutation.
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