Exclusion of the ninjurin gene as a candidate for hereditary sensory neuropathies type I and type II

Ninjurin is a protein that is up-regulated in Schwann cells and neurons aft er peripheral nerve injury, Its role in promoting nerve regeneration and it s expression in sensory neurons of dorsal root ganglia, as well as the chro mosomal localization of the ninjurin gene, makes this gene a candidate for hereditary sensory neuropathies (HSN), In the present report, the human nin jurin gene was analyzed in 17 unrelated patients with HSN type I, two patie nts with HSN type II, and 10 normal controls, by single strand conformation polymorphism and by direct sequencing. All three exons and splice junction s of the gene were investigated and no mutations were found in our sample o f patients. Our results rule out a mutation in the translated region of the ninjurin gene as a cause of HSN type I and type II, Am. J, Med, Genet, 83: 409-410, 1999, (C) 1999 Wiley-Liss, Inc.