Results Of PMP22 Gene Deletion and Duplication Analysis in 100 Patients with Hereditary Neuropathy
Abstract
BACKGROUND
Hereditary neuropathies, including CMT1A and HNPP, are commonly associated with PMP22 gene dosage alterations. Although MLPA is widely used, cost-effective alternatives are still needed in resource-limited settings.
METHODS
We analyzed PMP22 gene deletions and duplications in 100 patients with suspected hereditary neuropathy using PCR-RFLP.
RESULTS
PMP22 deletions and duplications were detected in 18% and 8% of patients, respectively.
CONCLUSIONS
Our findings support PCR-RFLP as a practical and accessible screening method for PMP22 gene dosage abnormalities, particularly in settings where advanced molecular techniques are not readily available.
© 2026 SG Ergün, EF Perçin, MA Ergün, published by Macedonian Academy of Sciences and Arts
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