title: Caspr1/Paranodin/Neurexin IV is most likely not a common disease-causing gene for inherited peripheral neuropathies.
abstract: Contactin associated protein 1 (Caspr1/Paranodin/Neurexin IV) is an axonal transmembrane molecule mainly localised at the paranodal junction. Since molecular alterations in septate-like junctions at the paranodes might have important consequences for the function of the nerve fiber, we considered that Caspr1 could be involved in the pathogenesis of inherited peripheral neuropathies. In this study, we physically mapped the Caspr1 gene on chromosome 17q21.1 and determined its genomic structure. We performed a mutation analysis of the Caspr1 gene in a cohort of 64 unrelated patients afflicted with distinct inherited peripheral neuropathies. Since no disease causing mutations were found, we suggest that Caspr1 is probably not a common cause of inherited peripheral neuropathies.
authors.affiliation: Peripheral Neuropathy Group, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), B-2610 Antwerpen, Belgium.
authors.forename: K
authors.initials: K
authors.lastname: Venken
authors.forename: J
authors.initials: J
authors.lastname: Meuleman
authors.forename: J
authors.initials: J
authors.lastname: Irobi
authors.forename: C
authors.initials: C
authors.lastname: Ceuterick
authors.forename: R
authors.initials: R
authors.lastname: Martini
authors.forename: P
authors.initials: P
authors.lastname: De Jonghe
authors.forename: V
authors.initials: V
authors.lastname: Timmerman
mesh_terms: D015816:Cell Adhesion Molecules, Neuronal; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics / Q000473:pathology; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005820:Genetic Testing; D006801:Humans; D008562:Membrane Glycoproteins / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics; D009479:Neuropeptides / Q000235:genetics; D010523:Peripheral Nervous System Diseases / Q000235:genetics* / Q000473:pathology; D022821:RNA Splice Sites / Q000235:genetics; D011901:Ranvier's Nodes / Q000473:pathology; D011956:Receptors, Cell Surface / Q000235:genetics*
chemical_list: C491323:CNTNAP1 protein, human; D015816:Cell Adhesion Molecules, Neuronal; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; D009479:Neuropeptides; D022821:RNA Splice Sites; D011956:Receptors, Cell Surface