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

Paola Mandich, Emilia Bellone, Emilio Di Maria, Simona Pigullo, Antonio Pizzuti, Angelo Schenone, Silvia Soriani, Alessandra Varese, Anthony J. Windebank, Franco Ajmar

Research output: Contribution to journalArticle

2 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)409-410
Number of pages2
JournalAmerican journal of medical genetics
Volume83
Issue number5
DOIs
StatePublished - Apr 23 1999

    Fingerprint

Keywords

  • HSAN, ninjurin
  • HSN type I
  • Hereditary neuropathy

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this