title: Connexin mutations in X-linked Charcot-Marie-Tooth disease.
abstract: X-linked Charcot-Marie-Tooth disease (CMTX) is a form of hereditary neuropathy with demyelination. Recently, this disorder was mapped to chromosome Xq13.1. The gene for the gap junction protein connexin32 is located in the same chromosomal segment, which led to its consideration as a candidate gene for CMTX. With the use of Northern (RNA) blot and immunohistochemistry technique, it was found that connexin32 is normally expressed in myelinated peripheral nerve. Direct sequencing of the connexin32 gene showed seven different mutations in affected persons from eight CMTX families. These findings, a demonstration of inherited defects in a gap junction protein, suggest that connexin32 plays an important role in peripheral nerve.
authors.affiliation: Department of Neurology, University of Pennsylvania Medical School, Children's Hospital of Philadelphia 19104.
authors.forename: J
authors.initials: J
authors.lastname: Bergoffen
authors.forename: S S
authors.initials: SS
authors.lastname: Scherer
authors.forename: S
authors.initials: S
authors.lastname: Wang
authors.forename: M O
authors.initials: MO
authors.lastname: Scott
authors.forename: L J
authors.initials: LJ
authors.lastname: Bone
authors.forename: D L
authors.initials: DL
authors.lastname: Paul
authors.forename: K
authors.initials: K
authors.lastname: Chen
authors.forename: M W
authors.initials: MW
authors.lastname: Lensch
authors.forename: P F
authors.initials: PF
authors.lastname: Chance
authors.forename: K H
authors.initials: KH
authors.lastname: Fischbeck
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002874:Chromosome Mapping; D017630:Connexins / Q000032:analysis / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009413:Nerve Fibers, Myelinated / Q000737:chemistry; D009419:Nerve Tissue Proteins / Q000032:analysis; D010525:Peripheral Nerves / Q000737:chemistry; D051381:Rats; D014960:X Chromosome; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D009419:Nerve Tissue Proteins; D000097002:Gap Junction beta-1 Protein