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- W3022133028 abstract "Werner's syndrome (WS) or progeria adultorum is a heritable autosomal recessive disease in which the aging process is accelerated, just after puberty. It is caused by mutations in the WRN gene, which encodes a member of the RECQ family of DNA helicases and has a role in DNA repair. WS is being more appropriately recognized as a condition in which the lack of WRN protein results in an overall decline in the normal physiological functions of various organs rather than premature aging. Here, we describe a rare case of WS with a novel mutation from India. Our patient was an adult male with a history of growth arrest since puberty and other clinical features such as sclerodermatous skin changes, premature graying and thinning of hair, bilateral cataract, a single non-healing ulcer, hypothyroidism, underdeveloped secondary sexual characters with hypogonadism, infertility, squeaky voice, and early signs of arteriosclerosis. On genetic analysis, he was found to have a homozygous pathogenic variant c.3190C>T in exon 26 of the WRN gene, which has never been reported in WS." @default.
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- W3022133028 date "2020-05-08" @default.
- W3022133028 modified "2023-09-23" @default.
- W3022133028 title "A Case Report of Werner’s Syndrome With a Novel Mutation From India" @default.
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- W3022133028 doi "https://doi.org/10.7759/cureus.8025" @default.
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