Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method

Human Mutation
Howard SlaterK H A Choo

Abstract

Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are the two most common peripheral neuropathies, with incidences of about 1 in 2,500. Several techniques can be used to detect the typical 1.5-Mb duplication or deletion associated with these respective conditions, but none combines simplicity with high sensitivity. MLPA is a new technique for measuring sequence dosage. We have assessed its performance for the detection of the specific 1.5-Mb duplication/deletion by prospectively testing 50 patients referred with differential diagnoses of CMT or HNPP. Probes were designed to evaluate the TEKT3, PMP22, and COX10 genes within the CMT1A/HNPP region. We have compared the results with our existing fluorescence in situ hybridization (FISH) assay, which was performed in parallel. There was concordance of results for 49 patients. Of note, one patient showed an intermediate multiplex ligation-dependent probe amplification (MLPA) result with an abnormal FISH result, which is consistent with mosaicism. The assay works equally well with either purified DNA or rapid DNA preparations made by direct cell lysis. The use of the latter significantly reduces the cost of the assay. MLPA ...Continue Reading

References

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Citations

Mar 30, 2006·Neurogenetics·Verena MatejasBernd Rautenstrauss
Aug 27, 2010·Journal of Human Genetics·Akiko AbeKiyoshi Hayasaka
Feb 18, 2011·Journal of Human Genetics·Akiko AbeKiyoshi Hayasaka
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Jun 9, 2017·Journal of Pediatric Endocrinology & Metabolism : JPEM·Jan WindholzAntje Körner
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Jun 16, 2006·Neuromolecular Medicine·Henry Houlden, Mary M Reilly

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