A rapid and definitive test for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies using multiplexed real-time PCR

Peter Lorentzos*, T. Kaiser, M. L. Kennerson, G. A. Nicholson

*Corresponding author for this work

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

Alterations in gene copy number have been shown to cause disease in humans. Two of the most common inherited peripheral neuropathies, Charcot-Marie-Tooth 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP), are two such diseases resulting from alteration in gene copy number of the dosage sensitive peripheral myelin protein 22 (PMP22) gene. Many complicated and laborious diagnostic tests exist for the diagnosis of these diseases. The aim of our study was to develop the first quantitative multiplex real-time PCR assay for the diagnosis of CMT1A and HNPP. A total of 160 individuals who were known to have CMT1A, HNPP, or were normal from previous testing were assayed by our multiplex real-time PCR method. The results confirmed the previously determined gene copy number of all patient and control individuals tested. The range of ratio values between the disease and control groups were easily defined. The assay is accurate, simple, and cost effective and can detect a 50% change in gene copy number. This represents an ideal assay for any small diagnostic laboratory.

Original languageEnglish
Pages (from-to)135-138
Number of pages4
JournalGenetic Testing
Volume7
Issue number2
DOIs
Publication statusPublished - Jun 2003
Externally publishedYes

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