Comparison of two PCR-based molecular methods in the diagnosis of CMT 1A and HNP

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Clin Neurol Neurosurg. 2008 May;110(5):466-71.

Comparison of two PCR-based molecular methods in the diagnosis of CMT

1A and HNPP diseases in Chinese.

Chen SR, Lin KP, Kuo HC, Chen CM, Hsieh ST, Lee MJ, Yang CC, Liu CS,

Huang CC, Lyu RK, Ro LS.

Section of Neuromuscular Disorders, Department of Neurology, Chang

Gung Memorial Hospital and University, 199 Tun Hwa North Road, Taipei

10591, Taiwan.

OBJECTIVES: Current molecular diagnostic methods in detecting Charcot-

Marie-Tooth type 1A (CMT1A) and hereditary neuropathy with liability

to pressure palsy (HNPP) diseases are either not sensitive or time-

consuming and costing. The aims of this study are improving the

accuracy and speeding up the diagnosis.

PATIENTS AND METHODS: We developed real-time quantitative PCR (QPCR) and three

polymorphic short tandem repeats (STRs) methods to test 53 unrelated CMT1A

patients, 12 unrelated HNPP patients and 100 normal control subjects.

RESULTS: QPCR in detection of pmp22 gene duplication (CMT1A) and

deletion (HNPP) showed a sensitivity of 100.00% (53/53) and 100.00%

(12/12), respectively. And this method also showed a specificity of

100% (100/100) in CMT1A and 100% (100/100) in HNPP, respectively. In

contrast, using three polymorphic STRs method showed a sensitivity of

50/53 (94%) in CMT1A and 12/12 (100.00%) of HNPP patients,

respectively. And this method showed a specificity of 97% (100/103)

in CMT1A and 100% (100/100) in HNPP, respectively.

CONCLUSION: QPCR and three STRs methods both demonstrate a rapid and robust

diagnosis with almost complete informativeness. The high sensitivity and

heterozygosity of these three polymorphic markers in detecting CMT1A/HNPP

subjects of Caucasian and Chinese showed the potential to become pan-ethnic

screening markers in the future.