Fine mapping of the hereditary sensory neuropathy type I locus on chromosome 9q22.1→q22.3: exclusion of GAS1 and XPA

Publisher Website
Google Scholar
Abstract
The peripheral neuropathy, hereditary sensory neuropathy type I (HSN-I) is an autosomal dominant degenerative disorder of sensory and motor neurons. The disease leads to distal sensory loss, distal muscle wasting and weakness, and variable neural deafness. The HSN-I locus was recently mapped to a large genetic interval on chromosome 9q22 that includes the candidate genes GASl and XPA. XPA mutations have been shown to cause peripheral neuropathy, and GAS 1 is related to the PMP22 gene, which is critical in the pathogenesis of two other peripheral neuropathies. By undertaking extensive genetic linkage analysis within the candidate region, we have refined the HSN-I locus to a critical interval of 3–4 cM. GASl, XPA, and several other genes that map within the interval initially identified for the disease locus have been investigated and excluded from playing a pathogenic role in HSN-I.

This publication has 0 references indexed in Scilit: