title: De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).
abstract: We have investigated the myelin P0 gene on chromosome 1 as a candidate gene in two sporadic cases with Dejerine-Sottas disease or hereditary motor and sensory neuropathy (HMSN) type III. We found different mutations, a cysteine substitution for serine 63 in the extracellular domain and an arginine substitution for glycine 167 in the transmembrane domain. The patients were genetically heterozygous for the normal allele and the mutant allele, which was absent in their parents and in one hundred unrelated, healthy controls. The results strongly suggest that a de novo dominant mutation of the P0 gene is responsible for at least some sporadic cases of Dejerine-Sottas disease.
authors.affiliation: Department of Pediatrics, Akita University School of Medicine, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Hayasaka
authors.forename: M
authors.initials: M
authors.lastname: Himoro
authors.forename: Y
authors.initials: Y
authors.lastname: Sawaishi
authors.forename: K
authors.initials: K
authors.lastname: Nanao
authors.forename: T
authors.initials: T
authors.lastname: Takahashi
authors.forename: G
authors.initials: G
authors.lastname: Takada
authors.forename: G A
authors.initials: GA
authors.lastname: Nicholson
authors.forename: R A
authors.initials: RA
authors.lastname: Ouvrier
authors.forename: N
authors.initials: N
authors.lastname: Tachi
mesh_terms: D000293:Adolescent; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D002878:Chromosomes, Human, Pair 1; D002886:Chromosomes, Human, Pair 17; D004247:DNA; D017931:DNA Primers; D005799:Genes, Dominant; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D018993:Myelin P0 Protein; D009185:Myelin Proteins / Q000235:genetics*; D017354:Point Mutation; D011487:Protein Conformation
chemical_list: D017931:DNA Primers; D018993:Myelin P0 Protein; D009185:Myelin Proteins; D004247:DNA