SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy.

ABSTRACT:

Background

Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant disorder that manifests as recurrent, episodic, painful brachial neuropathies. A gene for HNA maps to chromosome 17q25.3 where mutations in SEPT9, encoding the septin-9 protein, have been identified.

Objective

To determine the frequency and type of mutations in the SEPT9 gene in a new cohort of 42 unrelated HNA pedigrees.

Methods

DNA sequencing of all exons and intron-exon boundaries for SEPT9 was carried out in an affected individual in each pedigree from our HNA cohort. Genotyping using microsatellite markers spanning the SEPT9 gene was also used to identify pedigrees with a previously reported founder haplotype.

Results

Two missense mutations were found: c.262C>T (p.Arg88Trp) in seven

SUBMITTER: Hannibal MC 

PROVIDER: S-EPMC2683739 | biostudies-literature | 2009 May

REPOSITORIES: biostudies-literature