title: Exclusion of the ninjurin gene as a candidate for hereditary sensory neuropathies type I and type II.
abstract: Ninjurin is a protein that is up-regulated in Schwann cells and neurons after peripheral nerve injury. Its role in promoting nerve regeneration and its expression in sensory neurons of dorsal root ganglia, as well as the chromosomal localization of the ninjurin gene, makes this gene a candidate for hereditary sensory neuropathies (HSN). In the present report, the human ninjurin gene was analyzed in 17 unrelated patients with HSN type I, two patients with HSN type II, and 10 normal controls, by single strand conformation polymorphism and by direct sequencing. All three exons and splice junctions of the gene were investigated and no mutations were found in our sample of 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.
authors.affiliation: Department of Oncology, Biology and Genetics, University of Genoa, Italy. gm@unige.it
authors.forename: P
authors.initials: P
authors.lastname: Mandich
authors.forename: E
authors.initials: E
authors.lastname: Bellone
authors.forename: E
authors.initials: E
authors.lastname: Di Maria
authors.forename: S
authors.initials: S
authors.lastname: Pigullo
authors.forename: A
authors.initials: A
authors.lastname: Pizzuti
authors.forename: A
authors.initials: A
authors.lastname: Schenone
authors.forename: S
authors.initials: S
authors.lastname: Soriani
authors.forename: A
authors.initials: A
authors.lastname: Varese
authors.forename: A J
authors.initials: AJ
authors.lastname: Windebank
authors.forename: F
authors.initials: F
authors.lastname: Ajmar
mesh_terms: D015816:Cell Adhesion Molecules, Neuronal / Q000235:genetics*; D002607:Charcot-Marie-Tooth Disease / Q000209:etiology* / Q000235:genetics*; D015417:Hereditary Sensory and Motor Neuropathy / Q000209:etiology* / Q000235:genetics*; D006801:Humans; D009414:Nerve Growth Factors / Q000235:genetics*; D017354:Point Mutation; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA
chemical_list: D015816:Cell Adhesion Molecules, Neuronal; C484438:NINJ1 protein, human; D009414:Nerve Growth Factors