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Results Of PMP22 Gene Deletion and Duplication Analysis in 100 Patients with Hereditary Neuropathy Cover

Results Of PMP22 Gene Deletion and Duplication Analysis in 100 Patients with Hereditary Neuropathy

Balkan Journal of Medical Genetics
Volume 29 (2026): Issue 1 (July 2026)
By: ,   and    
Open Access
|Oct 2026
Figures & tables

Figures & Tables

Figure 1:

PCR-RFLP image of PMP22 gene analysis for both CMT1A and HNPP. A) M: DNA marker (1 kb), U: Uncut, 1,2:wild type 3:heterozygous PMP22 duplication (CMT1A). B) M: DNA marker (1 kb), U: Uncut, 1:wild type, 2:heterozygous PMP22 deletion (HNPP).

Table 1.

Demographic and clinical characteristics of the study cohort.

VariableValue
Total patients (n)100
Male, n (%)52 (52%)
Female, n (%)48 (48%)
Age (years, mean ± SD)46.6 ± 13.1
Suspected CMT, n (%)52 (52%)
Suspected HNPP, n (%)48 (48%)
Table 2.

Distribution of PMP22 gene alterations according to clinical suspicion.

Clinical suspicionPMP22 deletion (HNPP)PMP22 duplication (CMT1A)No alterationTotal
CMT (n=52)-84452
HNPP (n=48)18-3048
Total18874100
DOI: https://doi.org/10.2478/bjmg-2026-0010 | Journal eISSN: 2199-5761 (formerly 1311-0160) | Journal ISSN: 1311-0160
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Language: English
Page range: 51 - 54
Published on: Oct 14, 2026
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Keywords:
PMP22 gene,
hereditary neuropathy,
CMT1A,
HNPP,
PCR-RFLP
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2026 SG Ergün, EF Perçin, MA Ergün, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 29 (2026): Issue 1 (July 2026)
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