title: De novo mutation of Charcot-Marie-Tooth disease type 1A.
abstract: Charcot-Marie-Tooth disease type 1A (CMT 1A) is an autosomal dominant demyelinating polyneuropathy associated with a 1.5-Mb duplication of the p11.2-p12 region of chromosome 17, including the peripheral myelin protein-22 (PMP-22) gene (CMT 1A duplication). We report a male patient with a de novo CMT 1A diagnosed on clinical, electrophysiologic, and molecular grounds. Motor nerve conduction velocity (MCV) of the patient was 10.9 m/s in the ulnar nerve. The MCV of both his parents was within the normal range. Southern blot analysis of BamHI digestion showed reduced intensity rate of SF85/PMP-22, indicating CMT 1A duplication. Haplotype analysis with pVAW4093a, demonstrated that the de novo CMT 1A duplication was of paternal origin.
authors.affiliation: School of Health Sciences, Sapporo Medical University, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Tachi
authors.forename: N
authors.initials: N
authors.lastname: Kozuka
authors.forename: K
authors.initials: K
authors.lastname: Ohya
authors.forename: S
authors.initials: S
authors.lastname: Chiba
mesh_terms: D015139:Blotting, Southern; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002886:Chromosomes, Human, Pair 17; D004252:DNA Mutational Analysis; D005799:Genes, Dominant / Q000235:genetics; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009185:Myelin Proteins / Q000235:genetics; D010375:Pedigree
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human