Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.

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

SUBMITTER: Landsverk ML 

PROVIDER: S-EPMC2722193 | biostudies-literature | 2009 Apr

REPOSITORIES: biostudies-literature