title: Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene.
abstract: Charcot-Marie-Tooth type 1 (CMT1) disease or hereditary motor and sensory neuropathy type I (HMSNI) is an autosomal dominant peripheral neuropathy. In most CMT1 families, the disease cosegregates with a 1.5-Mb duplication on chromosome 17p11.2 (CMT1A). A few patients have been found with mutations in the peripheral myelin protein 22 (PMP-22) gene located in the CMT1A region. In other families mutations have been identified in the major peripheral myelin protein P0 gene localized on chromosome 1q21-q23 (CMT1B). We performed a rapid mutation screening of the PMP-22 and P0 genes in non-duplicated CMT1 patients by single-strand conformation polymorphism analysis followed by direct polymerase chain reaction sequencing of genomic DNA. Six new single base changes in the P0 gene were observed: two missense mutations in, respectively, exons 2 and 3, two nonsense mutations in exon 4, and two silent mutations or polymorphisms in, respectively, exons 3 and 6.
authors.affiliation: Born Bunge Foundation (BBS), University of Antwerp (UIA), Department of Biochemistry, Antwerpen, Belgium.
authors.forename: E
authors.initials: E
authors.lastname: Nelis
authors.forename: V
authors.initials: V
authors.lastname: Timmerman
authors.forename: P
authors.initials: P
authors.lastname: De Jonghe
authors.forename: A
authors.initials: A
authors.lastname: Vandenberghe
authors.forename: D
authors.initials: D
authors.lastname: Pham-Dinh
authors.forename: A
authors.initials: A
authors.lastname: Dautigny
authors.forename: J J
authors.initials: JJ
authors.lastname: Martin
authors.forename: C
authors.initials: C
authors.lastname: Van Broeckhoven
mesh_terms: D001483:Base Sequence; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D018993:Myelin P0 Protein; D009185:Myelin Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D018993:Myelin P0 Protein; D009185:Myelin Proteins; C073687:PMP22 protein, human