Werner’s Syndrome: Understanding the Phenotype of Premature Aging—First Case Described in Colombia

Autor: A. Rincón, L. Mora, F. Suarez-Obando, J. A. Rojas
Jazyk: angličtina
Rok vydání: 2019
Předmět:
Zdroj: Case Reports in Genetics, Vol 2019 (2019)
Druh dokumentu: article
ISSN: 2090-6544
2090-6552
DOI: 10.1155/2019/8538325
Popis: 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.
Databáze: Directory of Open Access Journals
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