title: Fine mapping of the hereditary sensory neuropathy type I locus on chromosome 9q22.1-->q22.3: exclusion of GAS1 and XPA.
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 GAS1 and XPA. XPA mutations have been shown to cause peripheral neuropathy, and GAS1 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. GAS1, 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.
authors.affiliation: Molecular Medicine Laboratory, University of Sydney, Clinical Sciences Building, Concord Hospital, NSW, Australia. ianb@med.su.oz.au
authors.forename: I P
authors.initials: IP
authors.lastname: Blair
authors.forename: J L
authors.initials: JL
authors.lastname: Dawkins
authors.forename: G A
authors.initials: GA
authors.lastname: Nicholson
mesh_terms: D018797:Cell Cycle Proteins; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D004268:DNA-Binding Proteins / Q000235:genetics*; D058851:GPI-Linked Proteins; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics*; D006801:Humans; D008562:Membrane Glycoproteins / Q000235:genetics*; D008565:Membrane Proteins; D029701:Saccharomyces cerevisiae Proteins; D051760:Xeroderma Pigmentosum Group A Protein
chemical_list: D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; C066709:GAS1 protein, S cerevisiae; C096192:GAS1 protein, human; D058851:GPI-Linked Proteins; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D029701:Saccharomyces cerevisiae Proteins; C497314:XPA protein, human; D051760:Xeroderma Pigmentosum Group A Protein