Abstract
We report the results of mutational analysis in the following genes: GJB1, MPZ, PMP22, EGR2, and LITAF/SIMPLE in 57 Charcot-Marie-Tooth (CMT) patients of Serbian origin without the PMP22 duplication. We found 10 different mutations in 14 CMT patients: 6 mutations in GJB1, 3 in MPZ, and 1 in PMP22. Five of six GJB1 mutations are reported for the first time, and the most frequent one appears to be a founder mutation in the Serbian population. No mutations were found in EGR2 or LITAF. Thus, GJB1 mutation analysis should be done in patients without the PMP22 duplication and male-to-male transmission of CMT.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Adult
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Charcot-Marie-Tooth Disease / genetics*
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Child
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Child, Preschool
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Connexins / genetics
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DNA Mutational Analysis
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Early Growth Response Protein 2 / genetics
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Female
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Gap Junction beta-1 Protein
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Haplotypes
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Humans
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Male
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Middle Aged
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Mutation
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Myelin P0 Protein / genetics
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Myelin Proteins / genetics
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Nuclear Proteins / genetics
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Serbia
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Transcription Factors / genetics
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Young Adult
Substances
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Connexins
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EGR2 protein, human
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Early Growth Response Protein 2
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LITAF protein, human
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Myelin P0 Protein
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Myelin Proteins
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Nuclear Proteins
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PMP22 protein, human
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Transcription Factors