{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T01:11:25Z","timestamp":1789780285158,"version":"4.0.1"},"reference-count":35,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T00:00:00Z","timestamp":1776297600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Pathogenic variants in the PMP22 gene can lead to hereditary peripheral demyelinating neuropathies of varying severity, including hereditary neuropathy with liability to pressure palsies (HNPP), Charcot\u2013Marie\u2013Tooth disease types 1A and 1E (CMT1A, CMT1E), Roussy\u2013L\u00e9vy syndrome, and Dejerine\u2013Sottas disease (DSS). This study describes a novel deep intronic variant c.179-2809A&gt;G in the PMP22 gene, identified in two unrelated Avar families from Dagestan republic, Russia. This variant was identified in nine patients. In seven cases, it was detected in a heterozygous state, leading to the development of HNPP. In two cases, this variant was found in a homozygous state, resulting in a more severe CMT1A phenotype (Dejerine\u2013Sottas disease). The performed functional analysis allowed us to characterize the deleterious effect of this variant and propose an approach for personalized antisense therapy. This work demonstrates that, in Avar people with HNPP traits, variant c.179-2809A&gt;G should be considered as disease-causing and included in standard genetic testing.<\/jats:p>","DOI":"10.3390\/ijms27083572","type":"journal-article","created":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T15:14:12Z","timestamp":1776352452000},"page":"3572","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Identification and Targeted Correction of a Pathogenic PMP22 Deep Intronic Variant"],"prefix":"10.3390","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0431-1477","authenticated-orcid":false,"given":"Polina","family":"Chausova","sequence":"first","affiliation":[{"name":"Research Centre for Medical Genetics, Moscow 115522, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7023-7378","authenticated-orcid":false,"given":"Aysylu","family":"Murtazina","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Moscow 115522, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6594-6126","authenticated-orcid":false,"given":"Igor","family":"Bychkov","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Moscow 115522, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inga","family":"Anisimova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Moscow 115522, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7080-7844","authenticated-orcid":false,"given":"Alexandra","family":"Ilyushkina","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Moscow 115522, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamilla","family":"Mollaeva","sequence":"additional","affiliation":[{"name":"Neuromed Medical Center, Machachkala 367000, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asiyat","family":"Magomedova","sequence":"additional","affiliation":[{"name":"State Budgetary Institution of the Republic of Dagestan \u201cRepublican Diagnostic Center\u201d, Machachkala 367000, Russia"},{"name":"Medical Center \u201cLekar\u201d, Machachkala 367015, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vyacheslav","family":"Tabakov","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Moscow 115522, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4764-0841","authenticated-orcid":false,"given":"Tatyana","family":"Hegay","sequence":"additional","affiliation":[{"name":"Immunology and Human Genomics of the Academy of Science of the Republic of Uzbekistan, Tashkent 100060, Uzbekistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alena","family":"Chukhrova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Moscow 115522, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksandr","family":"Polyakov","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Moscow 115522, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,4,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1002\/humu.1380030203","article-title":"Genetic basis of inherited peripheral neuropathies","volume":"3","author":"Suter","year":"1994","journal-title":"Hum. 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