title: Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene.
abstract: BACKGROUND
  Charcot-Marie-Tooth disease type 2A (CMT2A) was assigned to a 19.3-cM region on chromosome 1p35-36. A missense mutation in the kinesin family member 1B gene (KIF1B) was reported in a single CMT2A family.
  
  
  OBJECTIVE
  To report the clinical and genetic data of a Turkish family with CMT2A.
  
  
  METHODS
  Linkage to CMT2 loci was investigated in the family. Haplotype analysis of the CMT2A region was completed using additional single-nucleotide polymorphism and short tandem repeat markers. The KIF1B gene was sequenced on genomic DNA and cDNA in two patients.
  
  
  RESULTS
  A recombination event narrowed the CMT2A locus to a 9.3-cM region flanked by D1S160 and D1S434. No mutation in KIF1B was found.
  
  
  CONCLUSIONS
  The exclusion of KIF1B gene mutations in this family suggests the involvement of another CMT2A gene in the linked region.
authors.affiliation: Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey.
authors.forename: N
authors.initials: N
authors.lastname: Bissar-Tadmouri
authors.forename: E
authors.initials: E
authors.lastname: Nelis
authors.forename: S
authors.initials: S
authors.lastname: Züchner
authors.forename: Y
authors.initials: Y
authors.lastname: Parman
authors.forename: F
authors.initials: F
authors.lastname: Deymeer
authors.forename: P
authors.initials: P
authors.lastname: Serdaroglu
authors.forename: P
authors.initials: P
authors.lastname: De Jonghe
authors.forename: V
authors.initials: V
authors.lastname: Van Gerwen
authors.forename: V
authors.initials: V
authors.lastname: Timmerman
authors.forename: J M
authors.initials: JM
authors.lastname: Schröder
authors.forename: E
authors.initials: E
authors.lastname: Battaloglu
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D018797:Cell Cycle Proteins / Q000235:genetics*; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D002648:Child; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D005006:Ethnicity / Q000235:genetics*; D005190:Family / Q000208:ethnology; D005260:Female; D008040:Genetic Linkage / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D016547:Kinesins / Q000235:genetics*; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009431:Neural Conduction / Q000502:physiology; D009687:Nuclear Proteins; D010375:Pedigree; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D020080:Tandem Repeat Sequences / Q000235:genetics; D014421:Turkey / Q000208:ethnology
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; D018797:Cell Cycle Proteins; D005819:Genetic Markers; C091053:KIF1B protein, human; C470309:MAD2L1BP protein, human; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D016547:Kinesins