{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T19:46:02Z","timestamp":1792007162071,"version":"4.4.0"},"reference-count":12,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,7,1]]},"abstract":"Abstract<\/jats:title>\n \n BACKGROUND<\/jats:title>\n \n Hereditary neuropathies, including CMT1A and HNPP, are commonly associated with\n PMP22<\/jats:italic>\n gene dosage alterations. Although MLPA is widely used, cost-effective alternatives are still needed in resource-limited settings.\n <\/jats:p>\n <\/jats:sec>\n \n METHODS<\/jats:title>\n \n We analyzed\n PMP22<\/jats:italic>\n gene deletions and duplications in 100 patients with suspected hereditary neuropathy using PCR-RFLP.\n <\/jats:p>\n <\/jats:sec>\n \n RESULTS<\/jats:title>\n \n PMP22<\/jats:italic>\n deletions and duplications were detected in 18% and 8% of patients, respectively.\n <\/jats:p>\n <\/jats:sec>\n \n CONCLUSIONS<\/jats:title>\n \n Our findings support PCR-RFLP as a practical and accessible screening method for\n PMP22<\/jats:italic>\n gene dosage abnormalities, particularly in settings where advanced molecular techniques are not readily available.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.2478\/bjmg-2026-0010","type":"journal-article","created":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T18:57:32Z","timestamp":1792004252000},"page":"51-54","source":"Crossref","is-referenced-by-count":0,"title":["Results Of\n PMP22<\/i>\n Gene Deletion and Duplication Analysis in 100 Patients with Hereditary Neuropathy"],"prefix":"10.2478","volume":"29","author":[{"given":"SG","family":"Erg\u00fcn","sequence":"first","affiliation":[{"name":"Hacettepe University Faculty of Medicine , Department of Medical Biology , Ankara , Turkiye"},{"name":"Gazi University Faculty of Medicine Department of Medical Genetics , Ankara , Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"EF","family":"Per\u00e7in","sequence":"additional","affiliation":[{"name":"Gazi University Faculty of Medicine Department of Medical Genetics , Ankara , Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"MA","family":"Erg\u00fcn","sequence":"additional","affiliation":[{"name":"Gazi University Faculty of Medicine Department of Medical Genetics , Ankara , Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2026,10,14]]},"reference":[{"key":"2026101418572367159_j_bjmg-2026-0010_ref_001","doi-asserted-by":"crossref","unstructured":"Hung CC, Lee CN, Lin CY, et al. Identification of deletion and duplication genotypes of the PMP22 gene using PCR-RFLP, competitive multiplex PCR, and multiplex ligation-dependent probe amplification: a comparison. Electrophoresis. 2008;29(3):618\u2013625.","DOI":"10.1002\/elps.200700340"},{"key":"2026101418572367159_j_bjmg-2026-0010_ref_002","doi-asserted-by":"crossref","unstructured":"Stangler Herodez S, Zagradisnik B, Erjavec Skerget A, Zagorac A, Kokalj Vokac N. Molecular diagnosis of PMP22 gene duplications and deletions: comparison of different methods. J Int Med Res. 2009;37(5):1626\u20131631.","DOI":"10.1177\/147323000903700542"},{"key":"2026101418572367159_j_bjmg-2026-0010_ref_003","doi-asserted-by":"crossref","unstructured":"Lin CY, Su YN, Lee CN, et al. A rapid and reliable detection system for the analysis of PMP22 gene dosage by MP\/DHPLC assay. J Hum Genet. 2006;51(3):227\u2013235.","DOI":"10.1007\/s10038-005-0350-9"},{"key":"2026101418572367159_j_bjmg-2026-0010_ref_004","doi-asserted-by":"crossref","unstructured":"Jung NY, Kwon HM, Nam DE, et al. Peripheral myelin protein 22 gene mutations in Charcot-Marie-Tooth disease type 1E patients. Genes (Basel). 2022;13(7):1219.","DOI":"10.3390\/genes13071219"},{"key":"2026101418572367159_j_bjmg-2026-0010_ref_005","doi-asserted-by":"crossref","unstructured":"Khadilkar SV, Yadav RS, Patel BA. Hereditary motor sensory neuropathies (HMSN)\/Charcot-Marie-Tooth disease (CMT). In: Neuromuscular Disorders: A Comprehensive Review with Illustrative Cases. Singapore: Springer Nature; 2024:661\u2013688.","DOI":"10.1007\/978-981-97-9010-4_44"},{"key":"2026101418572367159_j_bjmg-2026-0010_ref_006","doi-asserted-by":"crossref","unstructured":"Matsuda N, Ootsuki K, Kobayashi S, et al. A novel case of concurrent occurrence of demyelinating polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy. BMC Neurol. 2021;21(1):243.","DOI":"10.1186\/s12883-021-02256-y"},{"key":"2026101418572367159_j_bjmg-2026-0010_ref_007","doi-asserted-by":"crossref","unstructured":"Prior R, Silva A, Vangansewinkel T, et al. PMP22 duplication dysregulates lipid homeostasis and plasma membrane organization in developing human Schwann cells. Brain. 2024;147(5):awae158.","DOI":"10.1093\/brain\/awae158"},{"key":"2026101418572367159_j_bjmg-2026-0010_ref_008","doi-asserted-by":"crossref","unstructured":"Pareyson D, Saveri P, Pisciotta C. New developments in Charcot-Marie-Tooth neuropathy and related diseases. Curr Opin Neurol. 2017;30(5):471\u2013480.","DOI":"10.1097\/WCO.0000000000000474"},{"key":"2026101418572367159_j_bjmg-2026-0010_ref_009","doi-asserted-by":"crossref","unstructured":"Saporta AS, Sottile SL, Miller LJ, et al. Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann Neurol. 2011;69(1):22\u201333.","DOI":"10.1002\/ana.22166"},{"key":"2026101418572367159_j_bjmg-2026-0010_ref_010","doi-asserted-by":"crossref","unstructured":"Li J, Parker B, Martyn C, Natarajan C, Guo J. The PMP22 gene and its related diseases. Mol Neurobiol. 2013 Apr;47(2):673\u201398.","DOI":"10.1007\/s12035-012-8370-x"},{"key":"2026101418572367159_j_bjmg-2026-0010_ref_011","doi-asserted-by":"crossref","unstructured":"Parmar JM, Laing NG, Kennerson ML, Ravenscroft G. Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards. J Neurol Neurosurg Psychiatry. 2024.","DOI":"10.1136\/jnnp-2024-333436"},{"key":"2026101418572367159_j_bjmg-2026-0010_ref_012","doi-asserted-by":"crossref","unstructured":"Vervoort L, Vermeesch JR. Low copy repeats in the genome: from neglected to respected. Explor Med. 2023.","DOI":"10.37349\/emed.2023.00131"}],"container-title":["Balkan Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/reference-global.com\/pdf\/10.2478\/bjmg-2026-0010","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T18:57:33Z","timestamp":1792004253000},"score":1,"resource":{"primary":{"URL":"https:\/\/reference-global.com\/article\/10.2478\/bjmg-2026-0010"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,1]]},"references-count":12,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,10,14]]},"published-print":{"date-parts":[[2026,7,1]]}},"alternative-id":["10.2478\/bjmg-2026-0010"],"URL":"https:\/\/doi.org\/10.2478\/bjmg-2026-0010","relation":{},"ISSN":["2199-5761"],"issn-type":[{"value":"2199-5761","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,1]]}}}