Werner’s Syndrome: Understanding the Phenotype of Premature Aging—First Case Described in Colombia
Joint Authors
Rincon, Alejandra
Mora, L.
Suarez-Obando, F.
Rojas, J. A.
Source
Issue
Vol. 2019, Issue 2019 (31 Dec. 2019), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2019-02-12
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Rincon, Alejandra& Mora, L.& Suarez-Obando, F.& Rojas, J. A.. 2019. Werner’s Syndrome: Understanding the Phenotype of Premature Aging—First Case Described in Colombia. Case Reports in Genetics،Vol. 2019, no. 2019, pp.1-4.
https://search.emarefa.net/detail/BIM-1136076
Modern Language Association (MLA)
Rincon, Alejandra…[et al.]. Werner’s Syndrome: Understanding the Phenotype of Premature Aging—First Case Described in Colombia. Case Reports in Genetics No. 2019 (2019), pp.1-4.
https://search.emarefa.net/detail/BIM-1136076
American Medical Association (AMA)
Rincon, Alejandra& Mora, L.& Suarez-Obando, F.& Rojas, J. A.. Werner’s Syndrome: Understanding the Phenotype of Premature Aging—First Case Described in Colombia. Case Reports in Genetics. 2019. Vol. 2019, no. 2019, pp.1-4.
https://search.emarefa.net/detail/BIM-1136076
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1136076