Identification and Targeted Correction of a Pathogenic PMP22 Deep Intronic Variant
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-Sottas 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>G should be considered as disease-causing and included in standard genetic testing.
Authors
- И. В. Анисимова (ORCID: https://orcid.org/0000-0003-2667-9042)
- Aysylu F. Murtazina (ORCID: https://orcid.org/0000-0001-7023-7378)
- А. Л. Чухрова (ORCID: https://orcid.org/0000-0002-5474-4713)
- Polina Chausova (ORCID: https://orcid.org/0000-0002-0431-1477)
- Tatyana Hegay (ORCID: https://orcid.org/0000-0003-4764-0841)
- A. M. Polyakov
- Igor O. Bychkov (ORCID: https://orcid.org/0000-0002-6594-6126)
- А Г Магомедова
- Kamilla Mollaeva
- Vyacheslav Tabakov
- Alexandra Ilyushkina (ORCID: https://orcid.org/0000-0001-7080-7844)
Institutions
- Academy of Sciences Republic of Uzbekistan (UZ)
- NeuroMedical Center (US)
- Dagestan State Medical University (RU)
- DeKalb Medical Center (US)
- Dagestan State University (RU)
- Research Centre for Medical Genetics (RU)
Publication Details
- Journal
- International Journal of Molecular Sciences
- Published
- 2026-04-16
- DOI
- https://doi.org/10.3390/ijms27083572
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00