Werner’s Syndrome: Understanding the Phenotype of Premature Aging—First Case Described in Colombia
Werner’s syndrome (WS) is an autosomal recessive genetic disease, which is mainly characterized by scleroderma-like skin changes, juvenile cataracts, short stature, and signs of premature aging. We report a case of a 48-year-old male patient, who presents with cardinal signs of WS including high-pit...
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| Format: | Article |
| Language: | English |
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Wiley
2019-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2019/8538325 |
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| author | A. Rincón L. Mora F. Suarez-Obando J. A. Rojas |
| author_facet | A. Rincón L. Mora F. Suarez-Obando J. A. Rojas |
| author_sort | A. Rincón |
| collection | DOAJ |
| description | Werner’s syndrome (WS) is an autosomal recessive genetic disease, which is mainly characterized by scleroderma-like skin changes, juvenile cataracts, short stature, and signs of premature aging. We report a case of a 48-year-old male patient, who presents with cardinal signs of WS including high-pitched voice, sclerotic skin lesions mainly on feet, premature greying of scalp hair, bilateral cataracts, and “bird-like” facial appearance. In addition, the patient presents other clinical characteristics observed in patients with WS such as short stature, type 2 diabetes mellitus, hypogonadism, parental consanguinity, and a history of a sibling with similar clinical characteristics. WRN gene sequencing identified the homozygous pathogenic variant NM_00553.4: c.2581C>T (NP_000544.2: pGln861Ter). This is the first case of WS reported in the Colombian population. We report this case to avoid misdiagnosis of this infrequent condition and allow timely identification of potential complications associated with premature aging, especially malignancies, cardiovascular and metabolic diseases. |
| format | Article |
| id | doaj-art-d2d7fd1f67544f96997c051d48e9e4a1 |
| institution | OA Journals |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2019-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-d2d7fd1f67544f96997c051d48e9e4a12025-08-20T02:19:51ZengWileyCase Reports in Genetics2090-65442090-65522019-01-01201910.1155/2019/85383258538325Werner’s Syndrome: Understanding the Phenotype of Premature Aging—First Case Described in ColombiaA. Rincón0L. Mora1F. Suarez-Obando2J. A. Rojas3Human Genetics Institute, School of Medicine, Pontifical Xavierian University, Bogotá, ColombiaHuman Genetics Institute, School of Medicine, Pontifical Xavierian University, Bogotá, ColombiaHuman Genetics Institute, School of Medicine, Pontifical Xavierian University, Bogotá, ColombiaHuman Genetics Institute, School of Medicine, Pontifical Xavierian University, Bogotá, ColombiaWerner’s syndrome (WS) is an autosomal recessive genetic disease, which is mainly characterized by scleroderma-like skin changes, juvenile cataracts, short stature, and signs of premature aging. We report a case of a 48-year-old male patient, who presents with cardinal signs of WS including high-pitched voice, sclerotic skin lesions mainly on feet, premature greying of scalp hair, bilateral cataracts, and “bird-like” facial appearance. In addition, the patient presents other clinical characteristics observed in patients with WS such as short stature, type 2 diabetes mellitus, hypogonadism, parental consanguinity, and a history of a sibling with similar clinical characteristics. WRN gene sequencing identified the homozygous pathogenic variant NM_00553.4: c.2581C>T (NP_000544.2: pGln861Ter). This is the first case of WS reported in the Colombian population. We report this case to avoid misdiagnosis of this infrequent condition and allow timely identification of potential complications associated with premature aging, especially malignancies, cardiovascular and metabolic diseases.http://dx.doi.org/10.1155/2019/8538325 |
| spellingShingle | A. Rincón L. Mora F. Suarez-Obando J. A. Rojas Werner’s Syndrome: Understanding the Phenotype of Premature Aging—First Case Described in Colombia Case Reports in Genetics |
| title | Werner’s Syndrome: Understanding the Phenotype of Premature Aging—First Case Described in Colombia |
| title_full | Werner’s Syndrome: Understanding the Phenotype of Premature Aging—First Case Described in Colombia |
| title_fullStr | Werner’s Syndrome: Understanding the Phenotype of Premature Aging—First Case Described in Colombia |
| title_full_unstemmed | Werner’s Syndrome: Understanding the Phenotype of Premature Aging—First Case Described in Colombia |
| title_short | Werner’s Syndrome: Understanding the Phenotype of Premature Aging—First Case Described in Colombia |
| title_sort | werner s syndrome understanding the phenotype of premature aging first case described in colombia |
| url | http://dx.doi.org/10.1155/2019/8538325 |
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