A Case Report of Werner’s Syndrome With a Novel Mutation From India

    May 2020 in “ Cureus ”
    Ajeet Singh, Satyaki Ganguly, Namrata Chhabra, Hitesh Yadav, Junko Oshima
    TLDR A new genetic mutation causing Werner's syndrome was found in an Indian man.
    This case report described a rare instance of Werner's syndrome (WS) in an adult male from India, highlighting a novel mutation in the WRN gene, specifically a homozygous pathogenic variant c.3190C>T in exon 26, which had not been previously reported. The patient exhibited typical WS symptoms, including growth arrest since puberty, sclerodermatous skin changes, premature graying and thinning of hair, bilateral cataract, a non-healing ulcer, hypothyroidism, underdeveloped secondary sexual characteristics with hypogonadism, infertility, a squeaky voice, and early arteriosclerosis. This case contributed to the understanding of WS as a condition marked by a decline in physiological functions due to the lack of WRN protein, rather than merely premature aging.
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