Werner Syndrome Caused by Homozygous Frameshift Variant c.1578del in WRN
Background. Progerias are rare hereditary genetic disorders that cause the onset of aging to occur earlier than generally expected, which initiates the progression of many age-related diseases. Syndromes assigned to this group are usually a compound disturbance of multiple systems. Werner syndrome...
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Vilnius University Press
2024-12-01
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| Series: | Acta Medica Lituanica |
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| Online Access: | https://www.zurnalai.vu.lt/AML/article/view/35473 |
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| author | Jovita Patricija Druta Gunda Petraitytė Aušra Sasnauskienė Eglė Preikšaitienė |
| author_facet | Jovita Patricija Druta Gunda Petraitytė Aušra Sasnauskienė Eglė Preikšaitienė |
| author_sort | Jovita Patricija Druta |
| collection | DOAJ |
| description |
Background. Progerias are rare hereditary genetic disorders that cause the onset of aging to occur earlier than generally expected, which initiates the progression of many age-related diseases. Syndromes assigned to this group are usually a compound disturbance of multiple systems. Werner syndrome is among a few well described premature aging disorders associated with a higher likelihood of malignancies.
Clinical case. We present a 45-year-old man with a history of painful muscle spasms, general muscle pain and weakness. There was a progression of contractures of the plantar tendons, as well as the atrophy of the subcutaneous adipose tissue of the extremities. The patient was initially diagnosed with secondary small fiber sensory polyneuropathy and myotonia, but further genetic testing revealed the homozygous pathogenic variant c.1578del in the WRN gene associated with Werner syndrome.
Conclusions. The c.1578del variant, previously not described in literature in a homozygous state, causes Werner syndrome and is associated with the pronounced hallmarks of early senescence in the proband’s fibroblasts. Molecular diagnosis brings better treatment of manifestations and monitoring options for the patients, helping to establish more sufficient and secure patient care.
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| format | Article |
| id | doaj-art-1793c401b18041c4ad6469ed39c0aedf |
| institution | Kabale University |
| issn | 1392-0138 2029-4174 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Vilnius University Press |
| record_format | Article |
| series | Acta Medica Lituanica |
| spelling | doaj-art-1793c401b18041c4ad6469ed39c0aedf2025-02-11T18:08:32ZengVilnius University PressActa Medica Lituanica1392-01382029-41742024-12-0131210.15388/Amed.2024.31.2.9Werner Syndrome Caused by Homozygous Frameshift Variant c.1578del in WRNJovita Patricija Druta0Gunda Petraitytė1https://orcid.org/0000-0001-8669-7192Aušra Sasnauskienė2Eglė Preikšaitienė3Faculty of Medicine, Vilnius UniversityDepartment of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius UniversityDepartment of Biochemistry and Molecular Biology, Institute of Biosciences, Life Sciences Centre, Vilnius UniversityDepartment of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University Background. Progerias are rare hereditary genetic disorders that cause the onset of aging to occur earlier than generally expected, which initiates the progression of many age-related diseases. Syndromes assigned to this group are usually a compound disturbance of multiple systems. Werner syndrome is among a few well described premature aging disorders associated with a higher likelihood of malignancies. Clinical case. We present a 45-year-old man with a history of painful muscle spasms, general muscle pain and weakness. There was a progression of contractures of the plantar tendons, as well as the atrophy of the subcutaneous adipose tissue of the extremities. The patient was initially diagnosed with secondary small fiber sensory polyneuropathy and myotonia, but further genetic testing revealed the homozygous pathogenic variant c.1578del in the WRN gene associated with Werner syndrome. Conclusions. The c.1578del variant, previously not described in literature in a homozygous state, causes Werner syndrome and is associated with the pronounced hallmarks of early senescence in the proband’s fibroblasts. Molecular diagnosis brings better treatment of manifestations and monitoring options for the patients, helping to establish more sufficient and secure patient care. https://www.zurnalai.vu.lt/AML/article/view/35473Progeroid syndromesWerner syndromeWRN genepremature aging |
| spellingShingle | Jovita Patricija Druta Gunda Petraitytė Aušra Sasnauskienė Eglė Preikšaitienė Werner Syndrome Caused by Homozygous Frameshift Variant c.1578del in WRN Acta Medica Lituanica Progeroid syndromes Werner syndrome WRN gene premature aging |
| title | Werner Syndrome Caused by Homozygous Frameshift Variant c.1578del in WRN |
| title_full | Werner Syndrome Caused by Homozygous Frameshift Variant c.1578del in WRN |
| title_fullStr | Werner Syndrome Caused by Homozygous Frameshift Variant c.1578del in WRN |
| title_full_unstemmed | Werner Syndrome Caused by Homozygous Frameshift Variant c.1578del in WRN |
| title_short | Werner Syndrome Caused by Homozygous Frameshift Variant c.1578del in WRN |
| title_sort | werner syndrome caused by homozygous frameshift variant c 1578del in wrn |
| topic | Progeroid syndromes Werner syndrome WRN gene premature aging |
| url | https://www.zurnalai.vu.lt/AML/article/view/35473 |
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