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.
Conclusion:
The exclusion of KIF1B gene mutations in this family suggests the involvement of another CMT2A gene in the linked region.
Publication types
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Comparative Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Adaptor Proteins, Signal Transducing
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Adult
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Carrier Proteins / genetics*
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Cell Cycle Proteins / genetics*
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Charcot-Marie-Tooth Disease / diagnosis
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Charcot-Marie-Tooth Disease / ethnology
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Charcot-Marie-Tooth Disease / genetics*
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Child
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Chromosome Mapping
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Chromosomes, Human, Pair 1 / genetics
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Ethnicity / genetics*
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Family / ethnology
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Female
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Genetic Linkage / genetics
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Genetic Markers / genetics
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Humans
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Kinesins / genetics*
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Lod Score
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Male
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Middle Aged
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Mutation / genetics*
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Mutation, Missense / genetics
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Nerve Tissue Proteins / genetics*
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Neural Conduction / physiology
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Nuclear Proteins
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Pedigree
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Phenotype
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Polymorphism, Single Nucleotide / genetics
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Tandem Repeat Sequences / genetics
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Turkey / ethnology
Substances
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Adaptor Proteins, Signal Transducing
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Carrier Proteins
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Cell Cycle Proteins
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Genetic Markers
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KIF1B protein, human
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MAD2L1BP protein, human
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Nerve Tissue Proteins
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Nuclear Proteins
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Kinesins