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Detection of the PMP22 gene duplication in peripheral neuropathy patients: a study in Mexican population

H. Cortés, O. Hernández-Hernández, T. Bautista-Tirado, R.E. Escobar-Cedillo, J.J. Magaña, N. Leyva-García [REV NEUROL 2014;59:111-117] PMID: 25030070 DOI: https://doi.org/10.33588/rn.5903.2013517

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Volumen 59 | Number 03 | Nº of views of the article 13.732 | Nº of PDF downloads 226 | Article publication date 01/08/2014

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ABSTRACT

INTRODUCTION Charcot-Marie-Tooth disease (CMT) is a neuropathy that affects sensory and motor nerves. The most common CMT subtype is CMT1A due to a PMP22 duplication of a 1.5 Mb fragment on the 17p11.2-p12. The development of a specific molecular technique that detects the PMP22 duplication is necessary for the diagnosis of CMT1A.

AIM To establish a routinary test for detection of the PMP22 gene duplication in Mexican population and to estimate the CMT1A frequency in patients clinically diagnosed as CMT.

PATIENTS AND METHODS A cohort of 157 individuals clinically diagnosed as CMT were analyzed. The detection of the PMP22 gene duplication was performed using the comparative 2^–ΔΔCT qPCR method.

RESULTS The comparative 2^–ΔΔCT method was sensitive and reliable for the detection of the PMP22 duplication. In order to validate the testing, data was compared with FISH results. Duplication of PMP22 was detected in 79 patients (50.3%). Although CMT1A frequency is different among populations, in Mexican patients it was similar with other populations such as United States, Australia, Finland, Sweden and Spain.

CONCLUSIONS The qPCR technique is an accurate and inexpensive method for the diagnosis of CMT1A. This method can be routinely used in México where CMT1A represents ≈ 50% of CMT cases. Molecular diagnosis of CMT1A is essential for the genetic counseling and treatment of patients. KeywordsCharcot-Marie-Tooth 1A Mexican population Molecular testing Peripheral neuropathy PMP22 Quantitative PCR CategoriesNervios periféricos, unión neuromuscular y músculo

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Original

Detection of the PMP22 gene duplication in peripheral neuropathy patients: a study in Mexican population