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Abstract

Molecular diagnosis of Charcot-Marie-Tooth 1A disease and hereditary neuropathy with liability to pressure palsies by quantifying CMT1A-REP sequences: consequences of recombinations at variant sites on chromosomes 17p11.2-12.

A Vandenberghe, P Latour, G Chauplannaz, F Chapon, J Pouget, R Dumas, A Laguenay, E Ollagnon, M Bost, S Duthel, G Chazot, M Boucherat
Published July 1996
A Vandenberghe
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P Latour
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G Chauplannaz
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F Chapon
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J Pouget
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R Dumas
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A Laguenay
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E Ollagnon
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M Bost
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S Duthel
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G Chazot
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M Boucherat
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Abstract

The most frequent form of Charcot-Marie-Tooth disease (CMT1A; OMIM118.220) is the result of a duplication on chromosome 17 in pll.2-p12. This region contains PMP22, a gene expressed in peripheral myelin. The mutation results from an unequal crossing-over involving repeated sequences, CMT1A-REP, located on both sides of the duplicated region. The reciprocal product of this recombination is a deletion of the same region, which is associated with hereditary neuropathy with liability to pressure palsies (HNPP; OMIM162.500). Proximal and distal CMT1A-REP sequences can be distinguished by the presence of a variant EcoRI site. We quantified the number of these repeat sequences in 36 CMT1A and 40 HNPP patients. CMT1A-REP sequences are involved in almost all of the mutations. The majority of recombination breakpoints occur distally from the variant EcoRI site. However, a few have a breakpoint proximal to this site, which creates the risk of misinterpretation with respect to a duplicated/deleted status.

  • © 1996 The American Association for Clinical Chemistry
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Vol. 42, Issue 7
July 1996
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Molecular diagnosis of Charcot-Marie-Tooth 1A disease and hereditary neuropathy with liability to pressure palsies by quantifying CMT1A-REP sequences: consequences of recombinations at variant sites on chromosomes 17p11.2-12.
A Vandenberghe, P Latour, G Chauplannaz, F Chapon, J Pouget, R Dumas, A Laguenay, E Ollagnon, M Bost, S Duthel, G Chazot, M Boucherat
Clinical Chemistry Jul 1996, 42 (7) 1021-1025;
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Molecular diagnosis of Charcot-Marie-Tooth 1A disease and hereditary neuropathy with liability to pressure palsies by quantifying CMT1A-REP sequences: consequences of recombinations at variant sites on chromosomes 17p11.2-12.
A Vandenberghe, P Latour, G Chauplannaz, F Chapon, J Pouget, R Dumas, A Laguenay, E Ollagnon, M Bost, S Duthel, G Chazot, M Boucherat
Clinical Chemistry Jul 1996, 42 (7) 1021-1025;

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