Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family

    September 2021 in “ Frontiers in genetics ”
    Guangmin Chen, Ling Zhou, Qimou Chen, Juan Wang, Peng Jiang, Rufei Shen, Min Long, Huifang Zhou
    TLDR A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
    This case report documents the first instance of Woodhouse-Sakati Syndrome (WSS) in a Chinese consanguineous family, identifying a novel homozygous deletion variant (c.1111delA, p.(Ile371Term)) in the DCAF17 gene. The affected siblings, a 25-year-old woman and her younger brother, exhibited symptoms such as alopecia, hypogonadism, intellectual disability, hearing loss, and hyperglycemia. The mutation leads to a premature stop codon, confirming the WSS diagnosis. The study underscores the critical role of genetic testing in diagnosing rare inherited disorders and provides insights into the genetic basis and potential therapeutic targets for WSS.
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