Affiliation:
1. Sechenov First Moscow State Medical University
Abstract
Cockayne syndrome is a rare genetic disease from the group of premature aging syndromes associated with impaired DNA repair. The syndrome is autosomal recessive, and it is caused by pathogenic variants in ERCC8, ERCC6, XPB (ERCC3), XPD (ERCC2), and XPG (ERCC5) genes. Its prevalence is 1 case per 2.5 million people. The clinical signs include nervous, cardiovascular and musculoskeletal systems impairments, severe growth retardation, and body weight deficiency. The average life expectancy of these patients varies from 5 to 30 years and depends on the disease type and severity. There is no pathogenetic treatment. This article presents the results of the latest research on the disease diagnosis and management.
Publisher
Paediatrician Publishers LLC
Reference61 articles.
1. Karikkineth AC, Scheibye-Knudsen M, Fivenson E, et al. Cockayne syndrome: Clinical features, model systems and pathways. Ageing Res Rev. 2017;33:3–17. doi: https://doi.org/10.1016/j.arr.2016.08.002
2. Hafsi W, Saleh HM. Cockayne Syndrome. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024. Available online: https://www.ncbi.nlm.nih.gov/books/NBK525998. Accessed on June 09, 2024.
3. Chikhaoui A, Kraoua I, Calmels N, et al. Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations. Orphanet J Rare Dis. 2022;17(1):121. doi: https://doi.org/10.1186/s13023-022-02257-1
4. Milosic F, Hengstschläger M, Osmanagic-Myers S. Premature aging in genetic diseases: what conclusions can be drawn for physiological aging. Front Aging. 2024;4:1327833. doi: https://doi.org/10.3389/fragi.2023.1327833
5. Cockayne EA. Dwarfism with retinal atrophy and deafness. Arch Dis Child. 1936;11(61):1–8. doi: https://doi.org/10.1136/adc.11.61.1