Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome

    March 2018 in “ ˜The œAmerican journal of case reports ”
    Mohammad Almeqdadi, Jennifer L. Kemppainen, Pavel N. Pichurin, Ralitza H. Gavrilova
    TLDR People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
    The study on the c.436delC DCAF17 gene mutation in Woodhouse-Sakati Syndrome (WSS) analyzed 16 patients and highlighted significant phenotypic variability despite the same genetic mutation. All patients exhibited alopecia and hypogonadism, with varying occurrences of diabetes mellitus, hypothyroidism, intellectual disability, and sensorineural hearing loss. Dystonia often began in the oral region and affected gait, leading to disability in some cases. The c.436delC mutation was more frequently associated with hyperlipidemia and hypothyroidism but less commonly with diabetes mellitus and intellectual disability compared to other mutations. The findings underscored the need for personalized treatment and regular screening for thyroid function, lipid levels, and cardiac function in WSS patients.
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