Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide

    May 2026 in “ Cureus ”
    Zhahid H Baigh, Jibran A Sheikh, Baleekhudin Mohd O Dawar
    Studysummary This case report describes a 33-year-old Kashmiri woman with Woodhouse-Sakati syndrome who has a rare DCAF17 gene mutation, c.321+1G>A, providing further evidence for its role in the genetic basis of this neuroendocrine disorder.
    Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
    Read the full study on cureus.com →
    Discuss this study in the Community →

    Research cited in this study 2

    1. Woodhouse-Sakati Syndrome: The New Genetic Variant Of DCAF17 In Two Adult Sisters JCEM Case Reports · 2024
    2. C2orf37 Mutational Spectrum in Woodhouse-Sakati Syndrome Patients Clinical genetics · 2010