title: A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).
abstract: We have previously reported that heterozygosity for myelin Po gene mutations were associated with Charcot-Marie-Tooth disease type 1B (CMT1B) or Dejerine-Sottas disease. We investigated the Po gene in a family with clinical Dejerine-Sottas disease and found two children were homozygous for a deletion of Phe 64. The parents were heterozygous first cousins with subclinical CMT1B and slow nerve conduction velocities. These results suggest that the effect of homozygous Phe 64 deletion on impairment of myelination is dosage-dependent. Clinical phenotype and/or myelin impairment may be determined both by the type of mutation and by the dosage of mutated gene.
authors.affiliation: Department of Pediatrics, Yamagata University School of Medicine, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Ikegami
authors.forename: G
authors.initials: G
authors.lastname: Nicholson
authors.forename: H
authors.initials: H
authors.lastname: Ikeda
authors.forename: A
authors.initials: A
authors.lastname: Ishida
authors.forename: H
authors.initials: H
authors.lastname: Johnston
authors.forename: G
authors.initials: G
authors.lastname: Wise
authors.forename: R
authors.initials: R
authors.lastname: Ouvrier
authors.forename: K
authors.initials: K
authors.lastname: Hayasaka
mesh_terms: D001483:Base Sequence; D017931:DNA Primers / Q000737:chemistry; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D018993:Myelin P0 Protein / Q000235:genetics*; D010375:Pedigree; D010649:Phenylalanine; D017384:Sequence Deletion
chemical_list: D017931:DNA Primers; D018993:Myelin P0 Protein; D010649:Phenylalanine