SEPT9 mutations and a conserved 17q25 sequence in sporadic and hereditary brachial plexus neuropathy.

ABSTRACT:

Background

The 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.

Objective

To study the 17q25 sequence and SEPT9 in S-BPN (56 individuals) and H-BPN (13 kindreds).

Methods

Allele analysis at 17q25, SEPT9 DNA sequencing, and messenger RNA analysis from lymphoblast cultures were performed.<

SUBMITTER: Klein CJ 

PROVIDER: S-EPMC2770426 | biostudies-literature | 2009 Feb

REPOSITORIES: biostudies-literature